AMPD3 gene

adenosine monophosphate deaminase 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Jul 2008]

From UniProt:

AMP deaminase plays a critical role in energy metabolism.

From NCBI Gene:

  • Erythrocyte AMP deaminase deficiency

From UniProt:

Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE): A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. [MIM:612874]

Cytogenetic Location: 11p15, which is the short (p) arm of chromosome 11 at position 15

Molecular Location: base pairs 10,450,321 to 10,507,579 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15, which is the short (p) arm of chromosome 11 at position 15