AMPD3 Antibody – Rabbit Polyclonal

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]

AMPD3: AMP deaminase plays a critical role in energy metabolism. Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE); also known as erythrocyte AMP deaminase deficiency. AMPDDE is 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. Belongs to the adenosine and AMP deaminases family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.5.4.6; Nucleotide Metabolism - purine; Hydrolase

Chromosomal Location of Human Ortholog: 11p15

Cellular Component: cytosol

Molecular Function: metal ion binding; AMP deaminase activity

Biological Process: ATP metabolic process; IMP salvage; nucleobase, nucleoside and nucleotide metabolic process; ADP metabolic process; purine salvage; purine base metabolic process; AMP catabolic process

Disease: Erythrocyte Amp Deaminase Deficiency