Primary Identifier | MGI:2446526 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 78070 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables palmitoyl-(protein) hydrolase activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Located in axon; dendrite; and endoplasmic reticulum. Part of AMPA glutamate receptor complex. Is active in endoplasmic reticulum membrane; glutamatergic synapse; and postsynapse. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 73. Orthologous to human CPT1C (carnitine palmitoyltransferase 1C). PHENOTYPE: Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning. [provided by MGI curators] |