Type | Description |
---|---|
Definition | amnion associated transmembrane protein |
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 |
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
|
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