| Primary Identifier | MGI:1298204 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 19063 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables palmitoyl-(protein) hydrolase activity. Acts upstream of or within several processes, including grooming behavior; protein depalmitoylation; and regulation of phospholipase A2 activity. Located in several cellular components, including dendrite; lysosome; and neuronal cell body. Is active in presynaptic cytosol and synaptic vesicle membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study neuronal ceroid lipofuscinosis 1 and neuronal ceroid lipofuscinosis 3. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 1. Orthologous to human PPT1 (palmitoyl-protein thioesterase 1). PHENOTYPE: Homozygotes for a null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age. Retinal degeneration phenotypes are oberserved in mice homozygous for a null allele. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
