Primary Identifier | MGI:98467 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 20977 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables SH2 domain binding activity and identical protein binding activity. Involved in modulation of chemical synaptic transmission and synaptic vesicle endocytosis. Acts upstream of or within cellular response to organic substance. Located in several cellular components, including presynaptic active zone; presynaptic membrane; and synaptic vesicle membrane. Is active in Schaffer collateral - CA1 synapse. Is expressed in several structures, including diaphragm; gut; musculature; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 96. Orthologous to human SYP (synaptophysin). PHENOTYPE: Mice homozygous for either one of two independently generated knock-out mutations are viable and fertile and display normal central nervous system morphology and synaptic transmission with no detectable changes in synaptic plasticity or neurotransmitter release. [provided by MGI curators] |