Primary Identifier | MGI:87977 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 11636 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables adenylate kinase activity. Acts upstream of or within nucleoside monophosphate phosphorylation. Located in outer dense fiber. Is expressed in several structures, including heart; lung; metanephros; nervous system; and nose. Human ortholog(s) of this gene implicated in congenital nonspherocytic hemolytic anemia and hemolytic anemia. Orthologous to human AK1 (adenylate kinase 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction. [provided by MGI curators] |