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- Table of Contents
Facts about Vacuolar protein sorting-associated protein 13A.
Human | |
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Gene Name: | VPS13A |
Uniprot: | Q96RL7 |
Entrez: | 23230 |
Belongs to: |
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VPS13 family |
CHAC; chorea-acanthocytosis protein; vacuolar protein sorting 13 homolog A (S. cerevisiae); vacuolar protein sorting 13A
Mass (kDA):
360.276 kDA
Human | |
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Location: | 9q21.2 |
Sequence: | 9; NC_000009.12 (77177353..77421537) |
Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
PMID: 11381253 by Rampoldi L., et al. A conserved sorting-associated protein is mutant in chorea- acanthocytosis.
PMID: 11381254 by Ueno S., et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.