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 8.0.0) Enables adenylate kinase activity. Predicted to be involved in nucleobase-containing small molecule metabolic process and positive regulation of D-glucose transmembrane transport. 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] |