Knowledge (XXG)

PEX1

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Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, et al. (December 1989). "Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7".
1747:"Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes" 1671:
Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, et al. (December 1997). "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders".
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Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G (December 1997). "Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders".
1872:"Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease" 1323:"Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease" 312: 211: 1790:"Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I" 790: 134: 771: 1968:"Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction" 1513:
Braverman NE, D'Agostino MD, Maclean GE (June 2013). "Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives".
1466:"Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines" 2252: 1841:
Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p".
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Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p".
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Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes".
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Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes".
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and occur in 1 of every 50,000 births. Because of the autosomal recessive inheritance of Zellweger Syndrome, PEX1 is usually found in
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but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into
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and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as
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Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders, such as
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gene panels. A very common PEX1 variant, Gly843Asp, is a mild allele well-reported in the literature.
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Dodt G, Walter C (2004). "Study of Mutant Proteins with Folding Defects in Cultured Patient Cells".
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Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, et al. (March 2016).
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GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
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Tamura S, Okumoto K, Toyama R, Shimozawa N, Tsukamoto T, Suzuki Y, et al. (April 1998).
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Wanders RJ (May 2004). "Metabolic and molecular basis of peroxisomal disorders: a review".
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Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y (July 2001).
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Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J (June 2002).
1592:"PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders" 1441: 1424: 150: 2133: 1983: 1481: 1256:
National Center for Biotechnology Information, U.S. National Library of Medicine
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National Center for Biotechnology Information, U.S. National Library of Medicine
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Proceedings of the National Academy of Sciences of the United States of America
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Proceedings of the National Academy of Sciences of the United States of America
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Proceedings of the National Academy of Sciences of the United States of America
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Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI (November 2002).
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OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
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10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J
1526: 71: 1103: 1033: 757: 2182: 2100: 1393: 1143: 720: 716: 105:, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1 2190: 1925:"Identification of a common PEX1 mutation in Zellweger syndrome" 1429:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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associated with diverse cellular activities. This protein is
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Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (July 1998).
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Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (July 1998).
374: 2202: 2128:. Methods Mol. Biol. Vol. 232. pp. 165–73. 539: 1843:
Biochemical and Biophysical Research Communications
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Biochemical and Biophysical Research Communications
990: 961: 927: 898: 1745:Faber KN, Heyman JA, Subramani S (February 1998). 1273:"Entrez Gene: PEX1 peroxisome biogenesis factor 1" 1212: 1210: 1208: 1191: 1189: 1187: 1590:Crane DI, Maxwell MA, Paton BC (September 2005). 321: 220: 16:Protein-coding gene in the species Homo sapiens 1217:GRCm38: Ensembl release 89: ENSMUSG00000005907 2222: 8: 1555:American Journal of Medical Genetics. Part A 1515:Developmental Disabilities Research Reviews 1423:Waterham HR, Ebberink MS (September 2012). 1196:GRCh38: Ensembl release 89: ENSG00000127980 2229: 2215: 731: 581: 362: 261: 158: 60: 2061: 2026: 1991: 1940: 1905: 1895: 1823: 1813: 1770: 1607: 1489: 1440: 1356: 1346: 691:microtubule-based peroxisome localization 1267: 1265: 1183: 20: 701:protein import into peroxisome matrix 326: 287: 282: 225: 184: 179: 7: 2179: 2177: 2201:. You can help Knowledge (XXG) by 1098:This gene encodes a member of the 1088:which in humans is encoded by the 987: 958: 924: 895: 871: 852: 826: 807: 781: 762: 599:protein-containing complex binding 544: 462: 400: 379: 14: 1470:Molecular Genetics and Metabolism 2181: 2028:10.1203/00006450-200206000-00008 555: 548: 310: 303: 297: 274: 209: 202: 196: 171: 681:protein targeting to peroxisome 2126:Protein Misfolding and Disease 1751:Molecular and Cellular Biology 1078:Peroxisome biogenesis factor 1 566:More reference expression data 528:More reference expression data 432:right hemisphere of cerebellum 1: 2253:Human chromosome 7 gene stubs 1923:Collins CS, Gould SJ (1999). 1166:. These genetic diseases are 1164:neonatal adrenoleukodystrophy 1116:neonatal adrenoleukodystrophy 506:epithelium of small intestine 295: 194: 1442:10.1016/j.bbadis.2012.04.006 2248:Genes on human chromosome 7 1482:10.1016/j.ymgme.2015.12.009 2269: 2176: 609:protein C-terminus binding 448:left lobe of thyroid gland 2134:10.1385/1-59259-394-1:165 1984:10.1042/0264-6021:3570417 1252:"Mouse PubMed Reference:" 1234:"Human PubMed Reference:" 1102:family, a large group of 1064: 1059: 1055: 1048: 1032: 1013: 994: 965: 954: 931: 902: 891: 878: 874: 859: 855: 846: 833: 829: 814: 810: 801: 788: 784: 769: 765: 756: 741: 734: 730: 714: 584: 580: 563: 547: 538: 525: 474: 465: 412: 403: 373: 365: 361: 344: 331: 294: 273: 264: 260: 243: 230: 193: 170: 161: 157: 112: 109: 99: 92: 87: 68: 63: 46: 41: 36: 32: 28: 23: 1160:infantile Refsum disease 1120:infantile Refsum disease 1972:The Biochemical Journal 1897:10.1073/pnas.95.15.8630 1348:10.1073/pnas.95.15.8630 1134:PEX1 has been shown to 1019:Chr 7: 92.49 – 92.53 Mb 696:peroxisome organization 1855:10.1006/bbrc.1998.8522 1815:10.1073/pnas.95.8.4350 1300:10.1006/bbrc.1998.8522 510:superior frontal gyrus 486:neural layer of retina 1026:Chr 5: 3.65 – 3.69 Mb 660:extracellular exosome 1763:10.1128/mcb.18.2.936 1567:10.1002/ajmg.a.20661 650:peroxisomal membrane 289:Chromosome 5 (mouse) 187:Chromosome 7 (human) 64:List of PDB id codes 37:Available structures 2089:Nature Cell Biology 1888:1998PNAS...95.8630G 1806:1998PNAS...95.4350T 1382:Nature Cell Biology 1339:1998PNAS...95.8630G 1168:autosomal recessive 2189:This article on a 2063:10.1002/humu.10128 2015:Pediatric Research 1722:10.1038/ng1297-449 1685:10.1038/ng1297-445 1648:10.1007/BF00210677 1609:10.1002/humu.20211 1156:Zellweger Syndrome 1124:Zellweger syndrome 836:ENSMUSG00000005907 674:Biological process 633:Cellular component 604:nucleotide binding 592:Molecular function 494:left lobe of liver 2210: 2209: 1978:(Pt 2): 417–426. 1882:(15): 8630–8635. 1527:10.1002/ddrr.1113 1333:(15): 8630–8635. 1172:carrier screening 1075: 1074: 1071: 1070: 1044: 1043: 1009: 1008: 984: 983: 950: 949: 921: 920: 887: 886: 868: 867: 842: 841: 823: 822: 797: 796: 778: 777: 726: 725: 686:protein transport 576: 575: 572: 571: 534: 533: 521: 520: 459: 458: 357: 356: 256: 255: 83: 82: 79: 78: 47:Ortholog search: 2260: 2231: 2224: 2217: 2185: 2178: 2155: 2120: 2083: 2065: 2040: 2030: 2005: 1995: 1962: 1944: 1919: 1909: 1899: 1866: 1837: 1827: 1817: 1800:(8): 4350–4355. 1784: 1774: 1741: 1704: 1667: 1629: 1611: 1586: 1539: 1538: 1510: 1504: 1503: 1493: 1461: 1455: 1454: 1444: 1435:(9): 1430–1441. 1420: 1414: 1413: 1377: 1371: 1370: 1360: 1350: 1318: 1312: 1311: 1283: 1277: 1276: 1269: 1260: 1259: 1248: 1242: 1241: 1230: 1224: 1214: 1203: 1193: 1150:Related diseases 1080:, also known as 1057: 1056: 1028: 1021: 1004: 988: 979: 959: 955:RefSeq (protein) 945: 925: 916: 896: 872: 853: 827: 808: 782: 763: 732: 582: 568: 559: 552: 545: 530: 482:secondary oocyte 470: 468:Top expressed in 463: 420:body of pancreas 408: 406:Top expressed in 401: 380: 363: 353: 340: 329: 314: 307: 301: 290: 278: 262: 252: 239: 228: 213: 206: 200: 189: 175: 159: 153: 151:PEX1 - orthologs 104: 97: 74: 61: 55: 34: 33: 21: 2268: 2267: 2263: 2262: 2261: 2259: 2258: 2257: 2238: 2237: 2236: 2235: 2163: 2158: 2144: 2123: 2086: 2043: 2008: 1965: 1922: 1869: 1840: 1787: 1744: 1710:Nature Genetics 1707: 1673:Nature Genetics 1670: 1632: 1589: 1552: 1548: 1546:Further reading 1543: 1542: 1512: 1511: 1507: 1463: 1462: 1458: 1422: 1421: 1417: 1379: 1378: 1374: 1320: 1319: 1315: 1285: 1284: 1280: 1271: 1270: 1263: 1250: 1249: 1245: 1232: 1231: 1227: 1215: 1206: 1194: 1185: 1180: 1152: 1132: 1066:View/Edit Mouse 1061:View/Edit Human 1024: 1017: 1014:Location (UCSC) 1000: 996: 975: 971: 967: 941: 937: 933: 912: 908: 904: 817:ENSG00000127980 710: 669: 628: 624:ATPase activity 614:protein binding 564: 554: 553: 526: 517: 512: 508: 504: 500: 496: 492: 488: 484: 480: 466: 455: 450: 446: 442: 438: 436:skin of abdomen 434: 430: 426: 422: 418: 416:Achilles tendon 404: 348: 335: 327: 317: 316: 315: 308: 288: 265:Gene location ( 247: 234: 226: 216: 215: 214: 207: 185: 162:Gene location ( 113: 100: 93: 70: 48: 17: 12: 11: 5: 2266: 2264: 2256: 2255: 2250: 2240: 2239: 2234: 2233: 2226: 2219: 2211: 2208: 2207: 2186: 2175: 2174: 2169: 2162: 2161:External links 2159: 2157: 2156: 2142: 2121: 2101:10.1038/ncb982 2095:(5): 454–460. 2084: 2056:(5): 342–351. 2050:Human Mutation 2041: 2021:(6): 706–714. 2006: 1963: 1929:Human Mutation 1920: 1867: 1849:(3): 883–886. 1838: 1785: 1757:(2): 936–943. 1742: 1716:(4): 449–452. 1705: 1679:(4): 445–448. 1668: 1636:Human Genetics 1630: 1602:(3): 167–175. 1596:Human Mutation 1587: 1561:(4): 355–375. 1549: 1547: 1544: 1541: 1540: 1521:(3): 187–196. 1505: 1476:(3): 313–321. 1456: 1415: 1394:10.1038/ncb982 1388:(5): 454–460. 1372: 1313: 1294:(3): 883–886. 1278: 1261: 1243: 1225: 1204: 1182: 1181: 1179: 1176: 1151: 1148: 1131: 1128: 1073: 1072: 1069: 1068: 1063: 1053: 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1079: 1067: 1062: 1058: 1054: 1051: 1047: 1040: 1038: 1035: 1031: 1027: 1023: 1020: 1016: 1012: 1005: 1003: 999: 993: 989: 986: 980: 978: 974: 970: 964: 960: 957: 953: 946: 944: 940: 936: 930: 926: 923: 917: 915: 911: 907: 901: 897: 894: 892:RefSeq (mRNA) 890: 883: 882: 877: 873: 870: 864: 863: 858: 854: 851: 849: 845: 838: 837: 832: 828: 825: 819: 818: 813: 809: 806: 804: 800: 793: 792: 787: 783: 780: 774: 773: 768: 764: 761: 759: 755: 752: 749: 747: 744: 740: 737: 733: 729: 722: 718: 713: 707: 704: 702: 699: 697: 694: 692: 689: 687: 684: 682: 679: 678: 676: 673: 672: 666: 663: 661: 658: 656: 653: 651: 648: 646: 643: 641: 638: 637: 635: 632: 631: 625: 622: 620: 617: 615: 612: 610: 607: 605: 602: 600: 597: 596: 594: 591: 590: 587: 586:Gene ontology 583: 579: 567: 562: 558: 551: 546: 543: 541: 537: 529: 524: 513: 509: 505: 501: 497: 493: 489: 485: 481: 477: 476: 473: 469: 464: 461: 451: 447: 443: 439: 435: 431: 427: 423: 419: 415: 414: 411: 407: 402: 399: 398: 395: 393: 389: 387: 386: 382: 381: 378: 376: 372: 368: 364: 360: 352: 347: 343: 339: 334: 324: 320: 313: 306: 300: 293: 285: 281: 277: 272: 268: 263: 259: 251: 246: 242: 238: 233: 223: 219: 212: 205: 199: 192: 188: 182: 178: 174: 169: 165: 160: 156: 152: 148: 144: 140: 136: 132: 128: 124: 120: 116: 108: 103: 96: 91: 86: 75: 73: 67: 62: 59: 58: 54: 51: 44: 40: 35: 31: 27: 22: 19: 2203:expanding it 2195:chromosome 7 2188: 2125: 2092: 2088: 2053: 2049: 2018: 2014: 1975: 1971: 1935:(1): 45–53. 1932: 1928: 1879: 1875: 1846: 1842: 1797: 1793: 1754: 1750: 1713: 1709: 1676: 1672: 1642:(1): 79–80. 1639: 1635: 1599: 1595: 1558: 1554: 1518: 1514: 1508: 1473: 1469: 1459: 1432: 1428: 1418: 1385: 1381: 1375: 1330: 1326: 1316: 1291: 1287: 1281: 1255: 1246: 1237: 1228: 1153: 1133: 1130:Interactions 1097: 1089: 1081: 1077: 1076: 998:NP_001280735 995: 977:NP_001269607 973:NP_001269606 966: 935:NM_001293806 932: 914:NM_001282678 910:NM_001282677 903: 879: 860: 834: 815: 789: 770: 750: 745: 452:tibial nerve 390: 383: 110:External IDs 69: 18: 1112:peroxisomes 1108:cytoplasmic 1100:AAA protein 619:ATP binding 428:skin of leg 328:5|5 A1 248:92,528,520 235:92,487,020 88:Identifiers 2242:Categories 1223:, May 2017 1202:, May 2017 1178:References 1158:spectrum, 655:peroxisome 444:C1 segment 394:(ortholog) 349:3,687,232 336:3,646,066 131:HomoloGene 2193:on human 1002:NP_082053 969:NP_000457 943:NM_177211 939:NM_027777 906:NM_000466 736:Orthologs 706:transport 640:cytoplasm 139:GeneCards 2152:12840548 2109:12717447 2080:26081019 2072:12402331 2037:12032265 2002:11439091 1959:22153024 1951:10447258 1701:34034756 1664:44388911 1626:20330106 1618:16086329 1583:24025032 1575:15098234 1535:23798008 1500:26750748 1451:22871920 1402:12717447 1219:– 1198:– 1136:interact 1050:Wikidata 715:Sources: 665:membrane 514:yolk sac 2117:2426040 1993:1221968 1916:9671729 1884:Bibcode 1863:9588209 1834:9539740 1802:Bibcode 1781:9447990 1738:2487398 1730:9398848 1693:9398847 1656:2606480 1491:5214431 1410:2426040 1367:9671729 1335:Bibcode 1308:9588209 1221:Ensembl 1200:Ensembl 1104:ATPases 1086:protein 1084:, is a 848:UniProt 803:Ensembl 742:Species 721:QuickGO 645:cytosol 369:pattern 127:1918632 95:Aliases 2150:  2140:  2115:  2107:  2078:  2070:  2035:  2000:  1990:  1957:  1949:  1914:  1904:  1861:  1832:  1822:  1779:  1772:108805 1769:  1736:  1728:  1699:  1691:  1662:  1654:  1624:  1616:  1581:  1573:  1533:  1498:  1488:  1449:  1408:  1400:  1365:  1355:  1306:  1162:, and 1122:, and 1036:search 1034:PubMed 881:Q5BL07 862:O43933 758:Entrez 540:BioGPS 478:zygote 440:rectum 227:7q21.2 119:602136 2197:is a 2113:S2CID 2076:S2CID 1955:S2CID 1907:21127 1825:22492 1734:S2CID 1697:S2CID 1660:S2CID 1622:S2CID 1579:S2CID 1406:S2CID 1358:21127 1144:PEX26 1138:with 791:71382 751:Mouse 746:Human 717:Amigo 392:Mouse 385:Human 332:Start 267:Mouse 231:Start 164:Human 135:27006 2199:stub 2191:gene 2148:PMID 2138:ISBN 2105:PMID 2068:PMID 2033:PMID 1998:PMID 1947:PMID 1912:PMID 1859:PMID 1830:PMID 1777:PMID 1726:PMID 1689:PMID 1652:PMID 1614:PMID 1571:PMID 1559:126A 1531:PMID 1496:PMID 1447:PMID 1433:1822 1398:PMID 1363:PMID 1304:PMID 1142:and 1140:PEX6 1093:gene 1090:PEX1 1082:PEX1 772:5189 490:hand 375:Bgee 323:Band 284:Chr. 222:Band 181:Chr. 143:PEX1 115:OMIM 102:PEX1 72:1WLF 53:RCSB 50:PDBe 24:PEX1 2130:doi 2097:doi 2058:doi 2023:doi 1988:PMC 1980:doi 1976:357 1937:doi 1902:PMC 1892:doi 1851:doi 1847:245 1820:PMC 1810:doi 1767:PMC 1759:doi 1718:doi 1681:doi 1644:doi 1604:doi 1563:doi 1523:doi 1486:PMC 1478:doi 1474:117 1437:doi 1390:doi 1353:PMC 1343:doi 1296:doi 1292:245 345:End 244:End 147:OMA 123:MGI 43:PDB 2244:: 2146:. 2136:. 2111:. 2103:. 2091:. 2074:. 2066:. 2054:20 2052:. 2048:. 2031:. 2019:51 2017:. 2013:. 1996:. 1986:. 1974:. 1970:. 1953:. 1945:. 1933:14 1931:. 1927:. 1910:. 1900:. 1890:. 1880:95 1878:. 1874:. 1857:. 1845:. 1828:. 1818:. 1808:. 1798:95 1796:. 1792:. 1775:. 1765:. 1755:18 1753:. 1749:. 1732:. 1724:. 1714:17 1712:. 1695:. 1687:. 1677:17 1675:. 1658:. 1650:. 1640:84 1638:. 1620:. 1612:. 1600:26 1598:. 1594:. 1577:. 1569:. 1557:. 1529:. 1519:17 1517:. 1494:. 1484:. 1472:. 1468:. 1445:. 1431:. 1427:. 1404:. 1396:. 1384:. 1361:. 1351:. 1341:. 1331:95 1329:. 1325:. 1302:. 1290:. 1264:^ 1254:. 1236:. 1207:^ 1186:^ 1146:. 1126:. 1118:, 1095:. 719:/ 351:bp 338:bp 250:bp 237:bp 145:; 141:: 137:; 133:: 129:; 125:: 121:; 117:: 2230:e 2223:t 2216:v 2205:. 2154:. 2132:: 2119:. 2099:: 2093:5 2082:. 2060:: 2039:. 2025:: 2004:. 1982:: 1961:. 1939:: 1918:. 1894:: 1886:: 1865:. 1853:: 1836:. 1812:: 1804:: 1783:. 1761:: 1740:. 1720:: 1703:. 1683:: 1666:. 1646:: 1628:. 1606:: 1585:. 1565:: 1537:. 1525:: 1502:. 1480:: 1453:. 1439:: 1412:. 1392:: 1386:5 1369:. 1345:: 1337:: 1310:. 1298:: 1275:. 1258:. 1240:. 269:) 166:) 149::

Index

PDB
PDBe
RCSB
1WLF
Aliases
PEX1
OMIM
602136
MGI
1918632
HomoloGene
27006
GeneCards
PEX1
OMA
PEX1 - orthologs
Human
Chromosome 7 (human)
Chr.
Chromosome 7 (human)
Chromosome 7 (human)
Genomic location for PEX1
Genomic location for PEX1
Band
bp
bp
Mouse
Chromosome 5 (mouse)
Chr.
Chromosome 5 (mouse)

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