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: 55187
MIM: 608877
HGNC: 23595
Ensembl: ENSG00000048707
Variants:
dbSNP: 55187
ClinVar: 55187
TCGA: ENSG00000048707
COSMIC: VPS13D
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38160741 | 2024 | Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders. | 0 |
| 38569247 | 2024 | Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family. | 0 |
| 38160741 | 2024 | Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders. | 0 |
| 38569247 | 2024 | Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family. | 0 |
| 36193031 | 2023 | Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing. | 0 |
| 36768210 | 2023 | Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. | 2 |
| 36193031 | 2023 | Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing. | 0 |
| 36768210 | 2023 | Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. | 2 |
| 36156252 | 2022 | VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population. | 1 |
| 36156252 | 2022 | VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population. | 1 |
| 33623047 | 2021 | An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D-TSG101 interactions. | 46 |
| 33758164 | 2021 | The lncRNA Snhg1-Vps13D vesicle trafficking system promotes memory CD8 T cell establishment via regulating the dual effects of IL-7 signaling. | 20 |
| 33891012 | 2021 | VPS13D promotes peroxisome biogenesis. | 35 |
| 33891013 | 2021 | VPS13D bridges the ER to mitochondria and peroxisomes via Miro. | 70 |
| 34019822 | 2021 | Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease. | 16 |
Citation
Dessen P
VPS13D (vacuolar protein sorting 13 homolog D)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/42796/vps13d
