Primary Identifier | MGI:87930 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 11534 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables adenosine kinase activity and deoxyadenosine kinase activity. Involved in AMP salvage; GMP salvage; and dAMP salvage. Acts upstream of or within dATP biosynthetic process and purine ribonucleoside salvage. Located in nucleus. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Used to study steatotic liver disease. Human ortholog(s) of this gene implicated in hypermethioninemia due to adenosine kinase deficiency. Orthologous to human ADK (adenosine kinase). PHENOTYPE: Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation. [provided by MGI curators] |