240:. The dysfunction of the microsomal triglyceride transfer protein then results in insufficient levels of fats, cholesterol, and vitamins, which are necessary for growth and development. Therefore, clinical manifestations of abetalipoproteinemia include impaired
458:
Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the
Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient".
660:
Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ (September 1993). "Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia".
348:
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome".
580:"A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase"
621:"Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene"
820:
714:"A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency"
48:
537:
Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N (August 2000).
1606:
1301:
1296:
233:
192:
1387:
969:
228:. Abetalipoproteinemia is an inherited disorder characterized by an impaired absorption of fats and certain vitamins from the diet. Mutations in
1055:
763:"A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features"
864:
813:
1626:
1155:
1090:
712:
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A (August 2009).
1100:
925:
1426:
1224:
859:
60:
1593:
1421:
1085:
806:
272:
53:
1416:
1202:
1160:
494:
Al-Shali K, Wang J, Rosen F, Hegele RA (February 2003). "Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia".
400:
1006:
948:
838:
275:, which may cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the
1060:
578:
Rehberg EF, Samson-Bouma ME, Kienzle B, Blinderman L, Jamil H, Wetterau JR, Aggerbeck LP, Gordon DA (November 1996).
1234:
1229:
1033:
899:
959:
287:). These signs and symptoms can appear at any time from birth to adulthood. Phenotypes of the condition include
1150:
1028:
1197:
984:
151:
molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed
1192:
849:
184:
65:
1566:
1306:
1182:
1018:
996:
94:
761:
Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW (March 2009).
1407:
1313:
1170:
1119:
1065:
670:
358:
308:
225:
539:"Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia"
418:
328:
1337:
1105:
979:
694:
519:
382:
440:
1327:
1130:
911:
784:
743:
686:
642:
601:
560:
511:
476:
374:
245:
144:
311:, and more. A G15975A mutation has been found in a patient with the deficiency. In addition,
1140:
933:
774:
733:
725:
678:
632:
591:
550:
503:
468:
401:"MT-TN mitochondrially encoded tRNA asparagine [Homo sapiens (human)] - Gene - NCBI"
366:
284:
140:
89:
1045:
938:
674:
362:
256:. Mutations of GLY865TER, SER590ILE, ASN780TYR, ARG540HIS, IVS9AS, and ARG215TER of the
738:
713:
288:
276:
98:
555:
538:
1620:
1610:
829:
507:
118:
523:
1462:
1437:
1095:
974:
887:
698:
386:
196:
114:
77:
779:
762:
472:
253:
241:
237:
200:
172:
1214:
876:
637:
620:
596:
579:
167:(human mitochondrial map position 15956-16023) that transfers the amino acid
1145:
320:
300:
204:
176:
788:
747:
646:
564:
515:
480:
690:
619:
Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H (August 1999).
605:
378:
1291:
1165:
798:
729:
324:
296:
292:
249:
1451:
1446:
1366:
304:
180:
168:
1556:
1551:
1521:
1516:
1396:
1376:
1371:
1361:
1356:
1351:
1346:
682:
370:
316:
152:
72:
199:
in the liver and intestine. Beta-lipoproteins are essential in fat,
1576:
1571:
1561:
1546:
1541:
1531:
1526:
1511:
1506:
1501:
1496:
1491:
1486:
1481:
1476:
1471:
1267:
1254:
280:
148:
124:
802:
164:
147:
at position 12 and it spans 68 base pairs. The structure of a
271:
mutations may result in complex I deficiency of the
1460:
1435:
1405:
1385:
1335:
1326:
1280:
1243:
1211:
1179:
1127:
1118:
1074:
1042:
1015:
993:
956:
947:
924:
896:
873:
846:
837:
260:gene have been found in patients with the disease.
88:
83:
71:
59:
47:
39:
31:
26:
21:
625:Arteriosclerosis, Thrombosis, and Vascular Biology
315:mutations have been associated with late-onset
814:
203:, and fat-soluble vitamin transport from the
8:
1607:United States National Library of Medicine
1332:
1302:Mitochondrial permeability transition pore
1284:
1124:
953:
843:
821:
807:
799:
778:
737:
636:
595:
554:
195:, which is required for the synthesis of
1605:This article incorporates text from the
1297:Mitochondrial membrane transport protein
234:microsomal triglyceride transfer protein
193:microsomal triglyceride transfer protein
340:
1056:Cholesterol side-chain cleavage enzyme
18:
434:
432:
283:, and the muscles used for movement (
7:
107:Mitochondrially encoded tRNA proline
22:mitochondrially encoded tRNA proline
970:Coenzyme Q – cytochrome c reductase
584:The Journal of Biological Chemistry
236:and lead to reduced or absent beta-
207:to the bloodstream for absorption.
1156:Oxoglutarate dehydrogenase complex
1091:Glycerol-3-phosphate dehydrogenase
718:European Journal of Human Genetics
14:
1101:Carnitine palmitoyltransferase II
461:Molecular Genetics and Metabolism
117:that in humans is encoded by the
1225:Carbamoyl phosphate synthetase I
865:Long-chain-fatty-acid—CoA ligase
860:Carnitine palmitoyltransferase I
508:10.1046/j.0009-9163.2002.00175.x
1086:Glutamate aspartate transporter
273:mitochondrial respiratory chain
163:MT-TP is a small 68 nucleotide
1203:Pyruvate dehydrogenase complex
1161:Succinyl coenzyme A synthetase
191:is responsible for coding the
1:
556:10.1016/S0022-2275(20)33426-X
331:, and complex IV deficiency.
1007:Dihydroorotate dehydrogenase
1061:Steroid 11-beta-hydroxylase
780:10.1001/archneurol.2008.576
473:10.1016/j.ymgme.2006.12.010
1643:
1235:N-Acetylglutamate synthase
1230:Ornithine transcarbamylase
1034:Glycerol phosphate shuttle
900:monoamine neurotransmitter
439:Reference, Genetics Home.
224:have been associated with
16:Mitochondrial transfer RNA
1627:Human mitochondrial genes
1589:
1287:
1263:
960:oxidative phosphorylation
543:Journal of Lipid Research
423:Learn Science at Scitable
1151:Isocitrate dehydrogenase
1029:Malate-aspartate shuttle
638:10.1161/01.ATV.19.8.1950
597:10.1074/jbc.271.47.29945
1198:Glutamate dehydrogenase
985:Succinate dehydrogenase
445:Genetics Home Reference
139:gene is located on the
1594:mitochondrial diseases
1193:Aspartate transaminase
850:fatty acid degradation
441:"Abetalipoproteinemia"
1307:Mitochondrial carrier
1183:anaplerotic reactions
1019:mitochondrial shuttle
997:pyrimidine metabolism
767:Archives of Neurology
419:"tRNA / transfer RNA"
211:Clinical significance
1314:Translocator protein
1171:Malate dehydrogenase
1066:Aldosterone synthase
730:10.1038/ejhg.2009.12
405:www.ncbi.nlm.nih.gov
309:exercise intolerance
264:Complex I deficiency
226:abetalipoproteinemia
216:Abetalipoproteinemia
926:Intermembrane space
675:1993Natur.365...65S
363:1981Natur.290..457A
329:leukoencephalopathy
143:of the non-nuclear
1609:, which is in the
1281:Other/to be sorted
1246:alcohol metabolism
1106:Uncoupling protein
980:NADH dehydrogenase
232:cause an impaired
1601:
1600:
1585:
1584:
1328:Mitochondrial DNA
1322:
1321:
1276:
1275:
1131:citric acid cycle
1114:
1113:
920:
919:
912:Monoamine oxidase
496:Clinical Genetics
246:failure to thrive
197:beta-lipoproteins
183:synthesis during
145:mitochondrial DNA
104:
103:
1634:
1465:
1440:
1410:
1390:
1340:
1333:
1285:
1248:
1218:
1186:
1141:Citrate synthase
1134:
1125:
1079:
1049:
1022:
1000:
963:
954:
934:Adenylate kinase
905:
881:
853:
844:
823:
816:
809:
800:
793:
792:
782:
758:
752:
751:
741:
709:
703:
702:
683:10.1038/365065a0
657:
651:
650:
640:
616:
610:
609:
599:
590:(47): 29945–52.
575:
569:
568:
558:
534:
528:
527:
491:
485:
484:
455:
449:
448:
436:
427:
426:
415:
409:
408:
397:
391:
390:
371:10.1038/290457a0
357:(5806): 457–65.
345:
285:skeletal muscles
19:
1642:
1641:
1637:
1636:
1635:
1633:
1632:
1631:
1617:
1616:
1602:
1597:
1581:
1461:
1456:
1436:
1431:
1406:
1401:
1386:
1381:
1336:
1318:
1272:
1259:
1244:
1239:
1212:
1207:
1180:
1175:
1128:
1110:
1075:
1070:
1046:steroidogenesis
1043:
1038:
1016:
1011:
994:
989:
957:
943:
939:Creatine kinase
916:
902:
897:
892:
874:
869:
847:
833:
827:
797:
796:
760:
759:
755:
711:
710:
706:
659:
658:
654:
618:
617:
613:
577:
576:
572:
549:(8): 1199–204.
536:
535:
531:
493:
492:
488:
457:
456:
452:
438:
437:
430:
417:
416:
412:
399:
398:
394:
347:
346:
342:
337:
266:
218:
213:
161:
133:
17:
12:
11:
5:
1640:
1638:
1630:
1629:
1619:
1618:
1599:
1598:
1590:
1587:
1586:
1583:
1582:
1580:
1579:
1574:
1569:
1564:
1559:
1554:
1549:
1544:
1539:
1534:
1529:
1524:
1519:
1514:
1509:
1504:
1499:
1494:
1489:
1484:
1479:
1474:
1468:
1466:
1458:
1457:
1455:
1454:
1449:
1443:
1441:
1433:
1432:
1430:
1429:
1424:
1419:
1413:
1411:
1403:
1402:
1400:
1399:
1393:
1391:
1383:
1382:
1380:
1379:
1374:
1369:
1364:
1359:
1354:
1349:
1343:
1341:
1330:
1324:
1323:
1320:
1319:
1317:
1316:
1311:
1310:
1309:
1304:
1294:
1288:
1282:
1278:
1277:
1274:
1273:
1271:
1270:
1264:
1261:
1260:
1258:
1257:
1251:
1249:
1241:
1240:
1238:
1237:
1232:
1227:
1221:
1219:
1209:
1208:
1206:
1205:
1200:
1195:
1189:
1187:
1177:
1176:
1174:
1173:
1168:
1163:
1158:
1153:
1148:
1143:
1137:
1135:
1122:
1116:
1115:
1112:
1111:
1109:
1108:
1103:
1098:
1093:
1088:
1082:
1080:
1072:
1071:
1069:
1068:
1063:
1058:
1052:
1050:
1040:
1039:
1037:
1036:
1031:
1025:
1023:
1013:
1012:
1010:
1009:
1003:
1001:
991:
990:
988:
987:
982:
977:
972:
966:
964:
951:
949:Inner membrane
945:
944:
942:
941:
936:
930:
928:
922:
921:
918:
917:
915:
914:
908:
906:
894:
893:
891:
890:
884:
882:
871:
870:
868:
867:
862:
856:
854:
841:
839:Outer membrane
835:
834:
828:
826:
825:
818:
811:
803:
795:
794:
773:(3): 399–402.
753:
704:
669:(6441): 65–9.
652:
611:
570:
529:
486:
450:
428:
410:
392:
339:
338:
336:
333:
323:, pigmentosa,
289:encephalopathy
277:nervous system
265:
262:
217:
214:
212:
209:
160:
157:
132:
129:
109:also known as
102:
101:
92:
86:
85:
81:
80:
75:
69:
68:
63:
57:
56:
51:
45:
44:
41:
37:
36:
33:
29:
28:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1639:
1628:
1625:
1624:
1622:
1615:
1614:
1612:
1611:public domain
1608:
1596:
1595:
1588:
1578:
1575:
1573:
1570:
1568:
1565:
1563:
1560:
1558:
1555:
1553:
1550:
1548:
1545:
1543:
1540:
1538:
1535:
1533:
1530:
1528:
1525:
1523:
1520:
1518:
1515:
1513:
1510:
1508:
1505:
1503:
1500:
1498:
1495:
1493:
1490:
1488:
1485:
1483:
1480:
1478:
1475:
1473:
1470:
1469:
1467:
1464:
1459:
1453:
1450:
1448:
1445:
1444:
1442:
1439:
1434:
1428:
1425:
1423:
1420:
1418:
1415:
1414:
1412:
1409:
1404:
1398:
1395:
1394:
1392:
1389:
1384:
1378:
1375:
1373:
1370:
1368:
1365:
1363:
1360:
1358:
1355:
1353:
1350:
1348:
1345:
1344:
1342:
1339:
1334:
1331:
1329:
1325:
1315:
1312:
1308:
1305:
1303:
1300:
1299:
1298:
1295:
1293:
1290:
1289:
1286:
1283:
1279:
1269:
1266:
1265:
1262:
1256:
1253:
1252:
1250:
1247:
1242:
1236:
1233:
1231:
1228:
1226:
1223:
1222:
1220:
1217:
1216:
1210:
1204:
1201:
1199:
1196:
1194:
1191:
1190:
1188:
1185:
1184:
1178:
1172:
1169:
1167:
1164:
1162:
1159:
1157:
1154:
1152:
1149:
1147:
1144:
1142:
1139:
1138:
1136:
1133:
1132:
1126:
1123:
1121:
1117:
1107:
1104:
1102:
1099:
1097:
1094:
1092:
1089:
1087:
1084:
1083:
1081:
1078:
1073:
1067:
1064:
1062:
1059:
1057:
1054:
1053:
1051:
1048:
1047:
1041:
1035:
1032:
1030:
1027:
1026:
1024:
1021:
1020:
1014:
1008:
1005:
1004:
1002:
999:
998:
992:
986:
983:
981:
978:
976:
973:
971:
968:
967:
965:
962:
961:
955:
952:
950:
946:
940:
937:
935:
932:
931:
929:
927:
923:
913:
910:
909:
907:
904:
901:
895:
889:
886:
885:
883:
880:
878:
872:
866:
863:
861:
858:
857:
855:
852:
851:
845:
842:
840:
836:
831:
830:Mitochondrial
824:
819:
817:
812:
810:
805:
804:
801:
790:
786:
781:
776:
772:
768:
764:
757:
754:
749:
745:
740:
735:
731:
727:
724:(8): 1092–6.
723:
719:
715:
708:
705:
700:
696:
692:
688:
684:
680:
676:
672:
668:
664:
656:
653:
648:
644:
639:
634:
631:(8): 1950–5.
630:
626:
622:
615:
612:
607:
603:
598:
593:
589:
585:
581:
574:
571:
566:
562:
557:
552:
548:
544:
540:
533:
530:
525:
521:
517:
513:
509:
505:
501:
497:
490:
487:
482:
478:
474:
470:
466:
462:
454:
451:
446:
442:
435:
433:
429:
424:
420:
414:
411:
406:
402:
396:
393:
388:
384:
380:
376:
372:
368:
364:
360:
356:
352:
344:
341:
334:
332:
330:
326:
322:
318:
314:
310:
306:
302:
298:
294:
290:
286:
282:
278:
274:
270:
263:
261:
259:
255:
251:
247:
243:
239:
235:
231:
227:
223:
220:Mutations in
215:
210:
208:
206:
202:
198:
194:
190:
186:
182:
178:
175:chain at the
174:
171:to a growing
170:
166:
158:
156:
154:
150:
146:
142:
138:
130:
128:
126:
123:
120:
119:mitochondrial
116:
112:
108:
100:
99:
96:
93:
91:
87:
82:
79:
76:
74:
70:
67:
64:
62:
58:
55:
52:
50:
46:
42:
38:
34:
30:
25:
20:
1604:
1603:
1591:
1536:
1438:ATP synthase
1245:
1213:
1181:
1129:
1096:ATP synthase
1076:
1044:
1017:
995:
975:Cytochrome c
958:
898:
888:Kynureninase
875:
848:
770:
766:
756:
721:
717:
707:
666:
662:
655:
628:
624:
614:
587:
583:
573:
546:
542:
532:
502:(2): 135–8.
499:
495:
489:
467:(4): 453–7.
464:
460:
453:
444:
422:
413:
404:
395:
354:
350:
343:
312:
268:
267:
257:
244:and growth,
229:
221:
219:
188:
162:
136:
134:
121:
115:transfer RNA
110:
106:
105:
97:
40:Alt. symbols
1388:Complex III
254:steatorrhea
242:weight gain
238:lipoprotein
201:cholesterol
185:translation
173:polypeptide
27:Identifiers
1408:Complex IV
1215:urea cycle
903:metabolism
879:metabolism
877:tryptophan
335:References
84:Other data
1592:see also
1338:Complex I
1146:Aconitase
321:retinitis
301:hypotonia
205:intestine
131:Structure
78:NC_001807
49:NCBI gene
1621:Category
1292:Frataxin
1166:Fumarase
832:proteins
789:19273760
748:19223931
647:10446076
565:10946006
524:22241594
516:12630961
481:17275380
325:deafness
297:dystonia
293:epilepsy
250:diarrhea
179:site of
177:ribosome
159:Function
1452:MT-ATP8
1447:MT-ATP6
1367:MT-ND4L
739:2986557
699:4334532
691:8361539
671:Bibcode
606:8939939
387:4355527
379:7219534
359:Bibcode
305:myalgia
181:protein
169:proline
95:Chr. MT
1557:MT-TS2
1552:MT-TS1
1522:MT-TL2
1517:MT-TL1
1427:MT-CO3
1422:MT-CO2
1417:MT-CO1
1397:MT-CYB
1377:MT-ND6
1372:MT-ND5
1362:MT-ND4
1357:MT-ND3
1352:MT-ND2
1347:MT-ND1
1120:Matrix
787:
746:
736:
697:
689:
663:Nature
645:
604:
563:
522:
514:
479:
385:
377:
351:Nature
317:ataxia
279:, the
252:, and
153:clover
73:RefSeq
32:Symbol
1577:MT-TY
1572:MT-TW
1567:MT-TV
1562:MT-TT
1547:MT-TR
1542:MT-TQ
1537:MT-TP
1532:MT-TN
1527:MT-TM
1512:MT-TK
1507:MT-TI
1502:MT-TH
1497:MT-TG
1492:MT-TF
1487:MT-TE
1482:MT-TD
1477:MT-TC
1472:MT-TA
1268:PMPCB
1255:ALDH2
1077:other
695:S2CID
520:S2CID
383:S2CID
313:MT-TP
281:heart
269:MT-TP
258:MT-TP
230:MT-TP
222:MT-TP
189:MT-TP
141:p arm
137:MT-TP
122:MT-TP
113:is a
111:MT-TP
90:Locus
35:MT-TP
1463:tRNA
785:PMID
744:PMID
687:PMID
643:PMID
602:PMID
561:PMID
512:PMID
477:PMID
375:PMID
149:tRNA
135:The
125:gene
66:7494
61:HGNC
54:4571
43:MTTP
775:doi
734:PMC
726:doi
679:doi
667:365
633:doi
592:doi
588:271
551:doi
504:doi
469:doi
367:doi
355:290
165:RNA
1623::
783:.
771:66
769:.
765:.
742:.
732:.
722:17
720:.
716:.
693:.
685:.
677:.
665:.
641:.
629:19
627:.
623:.
600:.
586:.
582:.
559:.
547:41
545:.
541:.
518:.
510:.
500:63
498:.
475:.
465:90
463:.
443:.
431:^
421:.
403:.
381:.
373:.
365:.
353:.
327:,
319:,
307:,
303:,
299:,
295:,
291:,
248:,
187:.
155:.
127:.
1613:.
822:e
815:t
808:v
791:.
777::
750:.
728::
701:.
681::
673::
649:.
635::
608:.
594::
567:.
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526:.
506::
483:.
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447:.
425:.
407:.
389:.
369::
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