Primary Identifier | MGI:104563 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 108124 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables syntaxin binding activity. Involved in regulation of synaptic vesicle priming and synaptic vesicle priming. Acts upstream of or within several processes, including SNARE complex disassembly; apical protein localization; and nervous system development. Located in myelin sheath. Part of synaptobrevin 2-SNAP-25-syntaxin-1a complex. Is active in glutamatergic synapse. Is expressed in central nervous system; peripheral nervous system ganglion; and retina. Orthologous to human NAPA (NSF attachment protein alpha). PHENOTYPE: The homozygous null mutation is embryonic lethal while partial loss of function homozygous mutants develop hydrocephalus and die postnatally. These mutants also display central nervous system abnormalities and impaired motor capabilities. [provided by MGI curators] |