VPS13A
Vacuolar protein sorting 13 homolog A; associated with chorea-acanthocytosis
Gene Information Card
| Symbol | VPS13A |
|---|---|
| Full Name | vacuolar protein sorting 13 homolog A |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.2 |
| NCBI Gene ID | 23230 ncbi.nlm.nih.gov/gene/23230 |
| Ensembl ID | ENSG00000197969 |
| UniProt ID | Q96RL7 |
| OMIM ID | 605978 |
| HGNC ID | 1908 |
| Aliases | CHAC, hCHAC, KIAA0986, FLJ12763 |
Description
VPS13A encodes a protein involved in intracellular vesicle-mediated transport and lipid trafficking at membrane contact sites. Mutations in this gene cause chorea-acanthocytosis, a rare autosomal recessive neurodegenerative disorder characterized by progressive chorea, seizures, and acanthocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chorea-acanthocytosis | Loss-of-function mutations in VPS13A disrupt lipid transport at membrane contact sites, leading to neuronal dysfunction and erythrocyte membrane abnormalities. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Adrenal gland | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuroblastoma cell line |
| HeLa | 7.5 | Cervical carcinoma |
| HEK293 | 6.8 | Embryonic kidney |
| K562 | 5.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.234delG | Frameshift | Rare | Loss of function |
| c.847C>T (p.Arg283*) | Nonsense | Rare | Premature truncation |
| c.1234A>G (p.Lys412Glu) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Most VPS13A mutations are loss-of-function, leading to reduced or absent protein activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • lipid transport |
| • intracellular protein transport | • membrane contact site |
| • vesicle-mediated transport |
Pathways
• Vesicle-mediated transport
• Lipid transport at membrane contact sites
Protein Summary
VPS13A is a large, multi-domain protein (approx. 3174 amino acids) that localizes to membrane contact sites between organelles, facilitating lipid transfer. It contains a chorein domain and is essential for mitochondrial and lysosomal function. Loss of VPS13A leads to impaired autophagy and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS13A Knockout HEK293 Cell Line | EDC90422 | Human | 23230 | Details Get a Quote |
| VPS13A Knockout HeLa Cell Line | EDJ-KQ32193 | Human | 23230 | Details Get a Quote |
| VPS13A Knockout A-549 Cell Line | EDJ-KQ33521 | Human | 23230 | Details Get a Quote |
| VPS13A Knockout HCT 116 Cell Line | EDJ-KQ33522 | Human | 23230 | Details Get a Quote |
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