Identity
HGNC
LOCATION
9q21.2
LOCUSID
ALIAS
CHAC,CHOREIN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23230
MIM: 605978
HGNC: 1908
Ensembl: ENSG00000197969
Variants:
dbSNP: 23230
ClinVar: 23230
TCGA: ENSG00000197969
COSMIC: VPS13A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36977596 | 2023 | The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5. | 1 |
| 37209156 | 2023 | Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). | 1 |
| 37670483 | 2023 | An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis). | 2 |
| 37744224 | 2023 | Chorein sensitive microtubule organization in tumor cells. | 1 |
| 36977596 | 2023 | The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5. | 1 |
| 37209156 | 2023 | Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). | 1 |
| 37670483 | 2023 | An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis). | 2 |
| 37744224 | 2023 | Chorein sensitive microtubule organization in tumor cells. | 1 |
| 35357422 | 2022 | Structural and biochemical insights into lipid transport by VPS13 proteins. | 25 |
| 35950506 | 2022 | Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans. | 14 |
| 35994651 | 2022 | A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. | 24 |
| 35357422 | 2022 | Structural and biochemical insights into lipid transport by VPS13 proteins. | 25 |
| 35950506 | 2022 | Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans. | 14 |
| 35994651 | 2022 | A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. | 24 |
| 29752031 | 2020 | New pathogenic mutation of chorea-acanthocytosis. | 0 |
Citation
Dessen P
VPS13A (vacuolar protein sorting 13 homolog A)
Atlas Genet Cytogenet Oncol Haematol. 2012-02-01
Online version: http://atlasgeneticsoncology.org/gene/52602/vps13a
