Primary Identifier | MGI:1924105 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 235504 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables D-glucuronate transmembrane transporter activity. Involved in neurotransmitter loading into synaptic vesicle. Acts upstream of or within response to bacterium. Located in cytoplasmic vesicle and plasma membrane. Is active in glutamatergic synapse; lysosomal membrane; and synaptic vesicle membrane. Is expressed in several structures, including gut; liver; metanephros; nervous system; and sensory organ epithelium. Used to study lysosomal storage disease and sialuria. Human ortholog(s) of this gene implicated in sialuria. Orthologous to human SLC17A5 (solute carrier family 17 member 5). PHENOTYPE: Homozygous mutant mice exhibit numerous neurological abnormalities, including impaired exploratory and locomotor activity, hearing deficits, and an increased depressive-like response. [provided by MGI curators] |