Gene: AMPD3

Alternate names for this Gene: -

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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: adenosine monophosphate deaminase 3

Type of Gene: protein-coding

rs3741040 in AMPD3 gene and Erythrocyte Amp Deaminase Deficiency PMID 11139257 2001 A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

PMID 8004104 1994 A point mutation responsible for human erythrocyte AMP deaminase deficiency.

PMID 9598089 1998 Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.

PMID 7881427 1994 Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.

rs7125606 in AMPD3 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs72856182 in AMPD3 gene and Serum total cholesterol measurement PMID 30498476 2018 Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins.

rs11042841 in AMPD3 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs899013 in AMPD3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.