Primary Identifier | MGI:1923442 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 76192 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables lysophospholipase activity; monoacylglycerol lipase activity; and palmitoyl-(protein) hydrolase activity. Involved in lipid catabolic process; protein depalmitoylation; and regulation of inflammatory response. Acts upstream of or within adult walking behavior; phosphatidylserine catabolic process; and response to auditory stimulus. Located in dendrite cytoplasm and endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. [provided by MGI curators] |