VPS13A (Vacuolar protein sorting-associated protein 13A) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''VPS13A''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
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
Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease --evidence suggests that only 500 to 1,000 people worldwide have the condition. It is caused by a mutation in a gene that directs structural proteins in r ...
. Alternative splicing of this gene results in multiple transcript variants.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis
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