NP_001018047.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
28.5 kDa
NCBI Official Full Name
vacuolar protein sorting-associated protein 13A isoform C
NCBI Official Synonym Full Names
vacuolar protein sorting 13 homolog A (S. cerevisiae)
NCBI Protein Information
vacuolar protein sorting-associated protein 13A
UniProt Protein Name
Vacuolar protein sorting-associated protein 13A
UniProt Synonym Protein Names
Chorea-acanthocytosis protein; Chorein
UniProt Synonym Gene Names
UniProt Entry Name
VP13A_HUMAN
NCBI Summary for VPS13A
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
UniProt Comments for VPS13A
VPS13A: May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane. Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC); also known as Levine-Critchley syndrome. CHAC is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Belongs to the VPS13 family. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 9q21
Cellular Component: extrinsic to membrane; intracellular
Molecular Function: protein binding
Biological Process: Golgi to endosome transport; locomotory behavior; nervous system development; protein localization; protein transport; social behavior
Disease: Choreoacanthocytosis
Product References and Citations for VPS13A recombinant protein
"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999)
Research Articles on VPS13A
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Products associated with VPS13A recombinant protein
Diseases associated with VPS13A recombinant protein
Organs/Tissues associated with VPS13A recombinant protein
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