| Entrez gene ID | | 272 |
|
| Official gene symbol | | AMPD3 |
|
| Full name | | adenosine monophosphate deaminase 3 |
|
| Aliases | | ,-, |
|
| Gene summary | | This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq] |
|
| Location | | Chromosome: 11 Locus: 11p15 |
|
| Gene position | | 10471868 - 10529126 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 57259 bp |
|
| Gene sequence |
| |
|
|
