Primary Identifier | MGI:106594 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14933 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glycerol kinase activity. Involved in triglyceride biosynthetic process. Acts upstream of or within glucose homeostasis; glycerol metabolic process; and regulation of fatty acid metabolic process. Located in mitochondrion. Is active in cytosol. Is expressed in several structures, including brain; brown fat; genitourinary system; liver; and spleen. Used to study glycerol kinase deficiency. Human ortholog(s) of this gene implicated in glycerol kinase deficiency. Orthologous to human GK (glycerol kinase). PHENOTYPE: Males hemizygous for a targeted null mutation show postnatal growth retardation, altered fat metabolism with severe hyperglycerolemia and increased free fatty acids, autonomous glucocorticoid synthesis and death by 4 days of age. Female heterozygotes show reduced free fatty acid and glucose levels. [provided by MGI curators] |