| Primary Identifier | MGI:1354961 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 104015 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization and synaptic vesicle uncoating. Acts upstream of or within several processes, including phosphatidylinositol dephosphorylation; synaptic vesicle cycle; and synaptic vesicle transport. Part of membrane coat. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including central nervous system; genitourinary system; peripheral nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 20; and developmental and epileptic encephalopathy 53. Orthologous to human SYNJ1 (synaptojanin 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth. [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
