513:
Luder, A. S.; Tanner, S. M.; de la
Chapelle, A.; Walter, J. H. (2008). "Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B(12) transport into the CNS".
398:. Cubilin and amnionless also play a role in renal tubular function. Cubilin is essential for embryonic development in rodents, but appears not to be essential for normal human embryonic development.
339:. Cubilin is essential as a cell receptor recognizing the "vitamin B12-intrinsic factor" complex, whereas amnionless is more involved in the receptor mediated endocytosis of the complex.
359:, and a functional absorption via the Cubam at terminal ileum. As expected, a defect at any point of the aforementioned list, can cause malabsorption of vitamin B12, and subsequent
379:(IGS)." Autosomal recessive mutations in both components of Cubam (AMN, and cubilin) is responsible for Imerslund-Gräsbeck syndrome, which manifests as macrocytic,
204:
53:
609:
604:
228:
77:
216:
65:
58:
209:
395:
376:
347:
Vitamin B12 is an essential water-soluble vitamin, the absorption of which relies on a functional secretion of salivary
363:. The most common cause of Vitamin B12 deficiency is deficiency of the intrinsic factor (IF) usually due to
415:
Pedersen, Gitte
Albinus; Chakraborty, Souvik; Stinhauser, Amie L.; Traub, Linton M.; Madsen, Mette (2010).
375:. However, a rare abnormality of AMN can also cause vitamin B12 anemia; this condition is referred to as "
70:
221:
274:
123:
417:"AMN directs endocytosis of the intrinsic factor-vitamin B(12) receptor cubam by engaging ARH or Dab2"
380:
614:
539:
364:
580:
531:
495:
446:
386:
Severe vitamin B12 deficiency is most commonly caused by an autoimmune mediated deficiency in
372:
360:
127:
570:
523:
485:
477:
436:
428:
387:
352:
269:
118:
298:
278:
147:
490:
465:
441:
416:
598:
543:
481:
432:
368:
557:
Storm T, Emma F, Verroust PJ, Hertz JM, Nielsen R, Christensen EI (January 2011).
245:
94:
390:. Rarely, a mutations in the gene CUBN, coding for cubilin, or AMN, coding for
348:
328:
308:
157:
323:, is the term used to refer to a multi-ligand receptor located in the terminal
527:
391:
332:
252:
101:
38:
22:
584:
535:
499:
450:
394:
cause an autosomal recessive form of vitamin B12 deficiency, known as the
575:
558:
356:
257:
106:
466:"Advances in the understanding of cobalamin assimilation and metabolism"
336:
189:
172:
240:
89:
324:
233:
82:
355:, functional cleavage of the haptocorrin via pancreatic
304:
294:
289:
268:
263:
251:
239:
227:
215:
203:
195:
185:
180:
171:
153:
143:
138:
117:
112:
100:
88:
76:
64:
52:
44:
34:
29:
21:
371:secreting intrinsic factor. This can lead to
8:
286:
135:
574:
489:
440:
407:
516:Journal of Inherited Metabolic Disease
168:
18:
176:(intrinsic factor-cobalamin receptor)
7:
559:"A patient with cubilin deficiency"
331:. Cubam is essentially composed of
351:, functional secretion of gastric
14:
482:10.1111/j.1365-2141.2009.07937.x
433:10.1111/j.1600-0854.2010.01042.x
327:, specializing in absorption of
470:British Journal of Haematology
367:, which reduces the number of
1:
610:Genes on human chromosome 10
605:Genes on human chromosome 14
464:Quadros, Edward V. (2010).
396:Imerslund-Gräsbeck syndrome
377:Imerslund-Gräsbeck syndrome
631:
528:10.1007/s10545-007-0760-2
285:
134:
343:Clinical significance
16:Multi-ligand receptor
576:10.1056/NEJMc1009804
381:megaloblastic anemia
365:atrophic gastritis
373:pernicious anemia
361:macrocytic anemia
318:
317:
314:
313:
167:
166:
163:
162:
622:
589:
588:
578:
554:
548:
547:
510:
504:
503:
493:
461:
455:
454:
444:
412:
388:intrinsic factor
353:intrinsic factor
287:
169:
136:
19:
630:
629:
625:
624:
623:
621:
620:
619:
595:
594:
593:
592:
563:N. Engl. J. Med
556:
555:
551:
512:
511:
507:
463:
462:
458:
414:
413:
409:
404:
345:
175:
25:homolog (mouse)
17:
12:
11:
5:
628:
626:
618:
617:
612:
607:
597:
596:
591:
590:
549:
505:
476:(2): 195–204.
456:
406:
405:
403:
400:
369:parietal cells
344:
341:
316:
315:
312:
311:
306:
302:
301:
296:
292:
291:
283:
282:
272:
266:
265:
261:
260:
255:
249:
248:
243:
237:
236:
231:
225:
224:
219:
213:
212:
207:
201:
200:
197:
193:
192:
187:
183:
182:
178:
177:
165:
164:
161:
160:
155:
151:
150:
145:
141:
140:
132:
131:
121:
115:
114:
110:
109:
104:
98:
97:
92:
86:
85:
80:
74:
73:
68:
62:
61:
56:
50:
49:
46:
42:
41:
36:
32:
31:
27:
26:
15:
13:
10:
9:
6:
4:
3:
2:
627:
616:
613:
611:
608:
606:
603:
602:
600:
586:
582:
577:
572:
568:
564:
560:
553:
550:
545:
541:
537:
533:
529:
525:
521:
517:
509:
506:
501:
497:
492:
487:
483:
479:
475:
471:
467:
460:
457:
452:
448:
443:
438:
434:
430:
427:(5): 706–20.
426:
422:
418:
411:
408:
401:
399:
397:
393:
389:
384:
382:
378:
374:
370:
366:
362:
358:
354:
350:
342:
340:
338:
334:
330:
326:
322:
310:
307:
303:
300:
297:
293:
288:
284:
281:
280:
276:
273:
271:
267:
262:
259:
256:
254:
250:
247:
244:
242:
238:
235:
232:
230:
226:
223:
220:
218:
214:
211:
208:
206:
202:
198:
194:
191:
188:
184:
179:
174:
170:
159:
156:
152:
149:
146:
142:
137:
133:
130:
129:
125:
122:
120:
116:
111:
108:
105:
103:
99:
96:
93:
91:
87:
84:
81:
79:
75:
72:
69:
67:
63:
60:
57:
55:
51:
47:
43:
40:
37:
33:
28:
24:
20:
569:(1): 89–91.
566:
562:
552:
519:
515:
508:
473:
469:
459:
424:
420:
410:
385:
346:
320:
319:
277:
196:Alt. symbols
126:
45:Alt. symbols
522:: 493–496.
349:haptocorrin
335:(AMN), and
329:vitamin B12
299:Swiss-model
181:Identifiers
148:Swiss-model
30:Identifiers
599:Categories
402:References
392:amnionless
333:amnionless
295:Structures
290:Search for
264:Other data
144:Structures
139:Search for
113:Other data
23:amnionless
615:Receptors
544:207099766
246:NM_001081
205:NCBI gene
95:NM_030943
54:NCBI gene
585:21208123
536:18181028
500:19832808
451:20088845
357:protease
309:InterPro
158:InterPro
491:2809139
442:2964065
421:Traffic
337:cubilin
305:Domains
275:Chr. 10
253:UniProt
173:cubilin
154:Domains
124:Chr. 14
102:UniProt
48:PRO1028
583:
542:
534:
498:
488:
449:
439:
258:O60494
241:RefSeq
234:602997
186:Symbol
128:q32.32
107:Q9BXJ7
90:RefSeq
83:605799
35:Symbol
540:S2CID
325:ileum
321:Cubam
270:Locus
119:Locus
71:14604
59:81693
581:PMID
532:PMID
496:PMID
447:PMID
229:OMIM
222:2548
217:HGNC
210:8029
199:MGA1
190:CUBN
78:OMIM
66:HGNC
571:doi
567:364
524:doi
486:PMC
478:doi
474:148
437:PMC
429:doi
279:p12
39:AMN
601::
579:.
565:.
561:.
538:.
530:.
520:31
518:.
494:.
484:.
472:.
468:.
445:.
435:.
425:11
423:.
419:.
383:.
587:.
573::
546:.
526::
502:.
480::
453:.
431::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.