AMPD3
≈ 2 min read
Names in other languages
No names in other languages are held for this entry yet.
Article bodies are English and are not machine-translated. A name in another language is not a translation of the article.
AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 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.
AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 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.
Text derived from https://en.wikipedia.org/w/index.php?oldid=1301313739 under CC BY-SA 4.0; modifications have been made.