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 8.0.0) Enables several functions, including 1-phosphatidylinositol binding activity; clathrin heavy chain binding activity; and protein kinase binding activity. Involved in clathrin coat assembly and neurotransmitter secretion. Predicted to be located in several cellular components, including neuronal cell body; postsynaptic density; and presynaptic active zone membrane. Predicted to be part of AP-2 adaptor complex. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be 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] |