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81693 AMN

81693

AMN

amnion associated transmembrane protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition amnion associated transmembrane protein

研究结论

Date Results Publications
2021-01-02 12:49:00 Imerslund-Grasbeck Syndrome presenting with microangiopathic hemolytic anemia in a child. 32045704
2019-01-05 11:33:00 Data indicate the crystal structure of amnionless (AMN) in complex with the amino-terminal region of intrinsic factor-cobalamin receptor (cubilin). 30523278
2018-12-22 11:21:00 Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin. 29402915
2015-07-04 10:14:00 heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Grasbeck Syndrome 26040326
2013-02-16 11:34:00 Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF. 22929189

名称对应

Type IDs
Synonymous PRO1028, amnionless
Gene
UniProtKB-ID: AMNLS_HUMAN, B3KP64_HUMAN
UniprotKB: Q9BXJ7, B3KP64
UniParc: UPI0000037792, UPI00001A829C
EMBL: CH471061, AK055802, AL117209, AF328788, AY358468
Ensembl: ENSG00000166126
KO: hsa:81693
Nucleutide sequences
EMBL-CDS: AAQ89949.1, AAK28532.1, EAW81798.1, BAG51576.1
Gene_ORFName: UNQ513/PRO1028, hCG_24750
Ensembl_TRS: ENST00000299155
Protein sequencees
Ensembl_PRO: ENSP00000299155
RefSeq: XP_011535505.1, XP_011535504.1, NP_112205.2, XP_024305482.1
Others
UniRef100: UniRef100_Q9BXJ7
UniRef90: UniRef90_Q9BXJ7
UniRef50: UniRef50_Q9BXJ7
UniGene: Hs.534494
CCDS: CCDS9977.1

全选

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