vacuolar protein sorting 13 homolog A

Summary
Gene Symbol
  • VPS13A
Organism
Homo sapiens (human)
NCBI Gene
23230
PubChem
23230
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cytoplasmic vesicle
  • Disease variant
  • Endoplasmic reticulum
  • Endosome
  • Epilepsy
  • Golgi apparatus
  • Lipid droplet
  • Lipid transport
  • Lysosome
  • Mitochondrion outer membrane
  • Neurodegeneration
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • TPR repeat
Proteins
Displaying 1 entry
UniProt Protein Name
Q96RL7
  • Chorea-acanthocytosis protein
  • Chorein
  • Vacuolar protein sorting-associated protein 13A
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050766 choreaacanthocytosis
DOID:12859 choreatic disease

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 4, 2025