Primary Identifier | MGI:700009 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 20404 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in cellular response to brain-derived neurotrophic factor stimulus; dendrite extension; and postsynaptic actin cytoskeleton organization. Acts upstream of or within regulation of receptor internalization and synaptic vesicle endocytosis. Located in early endosome. Is active in several cellular components, including glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic cytosol. Is expressed in several structures, including adrenal gland; central nervous system; dorsal aorta; peripheral nervous system; and testis. Orthologous to human SH3GL2 (SH3 domain containing GRB2 like 2, endophilin A1). PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators] |