Primary Identifier | MGI:1921700 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 74450 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pantothenate kinase activity. Involved in coenzyme A biosynthetic process. Acts upstream of or within several processes, including aerobic respiration; regulation of mitochondrial membrane potential; and spermatid development. Located in cytosol and mitochondrion. Is active in mitochondrial intermembrane space. Human ortholog(s) of this gene implicated in pantothenate kinase-associated neurodegeneration. Orthologous to human PANK2 (pantothenate kinase 2). PHENOTYPE: Homozygous null mice display male infertility, arrested spermatogenesis, azoospermia, reduced female fertility, and retinal degeneration. [provided by MGI curators] |