Gene: AK4

Alternate names for this Gene: AK 4|AK3|AK3L1|AK3L2

Gene Summary: This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: adenylate kinase 4

Type of Gene: protein-coding

rs1336472 in AK4 gene and Venous Thromboembolism PMID 23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.