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Protein Coding Gene : Borcs5 BLOC-1 related complex subunit 5

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]
  • synonyms:
  • BLOC-1 related complex subunit 5,
  • loss of heterozygosity, 12, chromosomal region 1 homolog (human),
  • RIKEN cDNA 5830457J20 gene,
  • 5830457J20Rik,
  • expressed sequence AW124643,
  • Borcs5,
  • AW124643,
  • Loh12cr1,
  • MGI:2141652

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