VPS13B vacuolar protein sorting 13 homolog B
Gene ID: 157680, updated on 3-Nov-2024Gene type: protein coding
Also known as: CHS1; COH1; BLTP5B
- See all available tests in GTR for this gene
- Go to complete Gene record for VPS13B
- Go to Variation Viewer for VPS13B variants
Summary
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cohen syndrome | not available |
| Genome-wide association study of smoking behaviours among Bangladeshi adults. GeneReviews: Not available | |
| Multiple loci influencing hippocampal degeneration identified by genome scan. GeneReviews: Not available |
Genomic context
- Location:
- 8q22.2
- Sequence:
- Chromosome: 8; NC_000008.11 (99013274..99877580)
- Total number of exons:
- 65
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VPS13B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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