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Protein Coding Gene : Vps33a VPS33A CORVET/HOPS core subunit
Primary Identifier  MGI:1924823 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  77573
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Acts upstream of or within pigmentation; platelet formation; and regulation of developmental pigmentation. Located in autophagosome and lysosome. Part of CORVET complex. Is expressed in ganglia. Used to study Hermansky-Pudlak syndrome. Orthologous to human VPS33A (VPS33A core subunit of CORVET and HOPS complexes).
PHENOTYPE: Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. [provided by MGI curators]
  • synonyms:
  • buff,
  • bf,
  • VPS33A CORVET/HOPS core subunit,
  • Vps33a,
  • expressed sequence AI503300,
  • expressed sequence AW048546,
  • MGI:2141231,
  • AW554476,
  • AW048546,
  • MGI:88148,
  • MGI:2141131,
  • MGI:2140920,
  • RIKEN cDNA 3830421M04 gene,
  • AI503300,
  • MGD-MRK-1541,
  • 3830421M04Rik,
  • expressed sequence AW554476
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2 Involved In Mutations

Trail: ProteinCodingGene

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Canonical gene --> Exons in specific strains

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