Primary Identifier | MGI:1915024 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 67774 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to be involved in lysosome localization; organelle transport along microtubule; and positive regulation of anterograde synaptic vesicle transport. Predicted to be located in intracellular membrane-bounded organelle and plasma membrane. Predicted to be part of BORC complex and plus-end kinesin complex. Predicted to be active in cytoplasmic side of lysosomal membrane and synaptic vesicle membrane. Is expressed in brain; heart; lung; and metanephros. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma. Orthologous to human BORCS5 (BLOC-1 related complex subunit 5). PHENOTYPE: Homozygous knockout affects lysosomal transport in nerve fibers, leading to respiratory failure around birth and perinatal death. [provided by MGI curators] |