Primary Identifier | MGI:109132 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 20616 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including 1-phosphatidylinositol binding activity; clathrin heavy chain binding activity; and protein kinase binding activity. Involved in clathrin coat assembly; neurotransmitter secretion; and synaptic vesicle budding from presynaptic endocytic zone membrane. Located in presynaptic endocytic zone and presynaptic endosome. Is extrinsic component of endosome membrane and extrinsic component of presynaptic endocytic zone membrane. Is expressed in several structures, including central nervous system; gut; limb; peripheral nervous system ganglion; and urinary system. Orthologous to human SNAP91 (synaptosome associated protein 91). PHENOTYPE: Mice homozygous for a knock-out allele display postnatal growth retardation, limb clasping, altered behavior, defects in synaptic vesicle reformation, impaired neurotransmission, excitatory/inhibitory imbalance, epileptic seizures, and premature death. [provided by MGI curators] |