vacuolar protein sorting 13 homolog B

Summary
Gene Symbol
  • VPS13B
Organism
Homo sapiens (human)
NCBI Gene
157680
PubChem
157680
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cytoplasmic vesicle
  • Disease variant
  • Endosome
  • Golgi apparatus
  • Lipid transport
  • Lipid-binding
  • Lysosome
  • Membrane
  • Obesity
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q7Z7G8
  • Cohen syndrome protein 1
  • Vacuolar protein sorting-associated protein 13B
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
vacuolar protein sorting-associated protein
Functional Category
  • E: Amino acid transport and metabolism
  • K: Transcription
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0111590 Cohen syndrome
DOID:83 cataract

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024