TBC1D23 TBC1 domain family member 23
Gene ID: 55773, updated on 3-Nov-2024Gene type: protein coding
Also known as: PCH11; NS4ATP1
- See all available tests in GTR for this gene
- Go to complete Gene record for TBC1D23
- Go to Variation Viewer for TBC1D23 variants
Summary
Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in WASH complex; cytoplasmic vesicle; and trans-Golgi network. Implicated in pontocerebellar hypoplasia type 11. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Pontocerebellar hypoplasia, type 11 | not available |
Genomic context
- Location:
- 3q12.1-q12.2
- Sequence:
- Chromosome: 3; NC_000003.12 (100260992..100325238)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBC1D23 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
- Variation ViewerRelated Variants
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