AMN Chromosome 14
Amnion associated transmembrane protein
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What This Gene Does
The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Imerslund-Grasbeck syndrome
Inborn genetic diseases
Imerslund-Grasbeck syndrome type 2
Cobalamin deficiency
Megaloblastic anemia
Imerslund-Grasbeck syndrome type 1
AMN-related disorder
Key Variants
RS1371462518
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Inborn genetic diseases, Imerslund-Grasbeck syndrome type 2
Health Risk
RS369865835
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Inborn genetic diseases, Imerslund-Grasbeck syndrome
Health Risk
RS386834164
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
Health Risk
RS542237999
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome
Health Risk
RS757540694
Conflicting classifications of pathogenicity
Inborn genetic diseases, Imerslund-Grasbeck syndrome, Inborn genetic diseases
Health Risk
RS777560818
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Inborn genetic diseases, Imerslund-Grasbeck syndrome
Health Risk
RS999834788
Conflicting classifications of pathogenicity
Inborn genetic diseases, Imerslund-Grasbeck syndrome type 2, Inborn genetic diseases
Health Risk
RS1039454314
Likely pathogenic
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome
Health Risk
RS119478058
Likely pathogenic
Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
Health Risk
RS1407245521
Likely pathogenic
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
Health Risk
RS144077391
Likely pathogenic
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
Health Risk
RS1555380625
Likely pathogenic
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2542695569 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542695969 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2 |
| RS2542696581 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542696599 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542696792 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542700246 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS2542701625 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS375774640 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2 |
| RS386834161 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS386834168 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2 |
| RS386834174 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS386834177 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome |
| RS769770182 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2 |
| RS770793845 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS921153411 | Health Risk | Pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome |
| RS1401073549 | Health Risk | Pathogenic/Likely pathogenic | AMN-related disorder, Imerslund-Grasbeck syndrome, AMN-related disorder |
| RS386834169 | Health Risk | Pathogenic/Likely pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome |