CEP41 centrosomal protein 41
Gene ID: 95681, updated on 3-Apr-2024Gene type: protein coding
Also known as: JBTS15; TSGA14
- See all available tests in GTR for this gene
- Go to complete Gene record for CEP41
- Go to Variation Viewer for CEP41 variants
Summary
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial aplasia of the vermis MedGen: C0431399GeneReviews: Joubert Syndrome | See labs |
| Joubert syndrome 15 | See labs |
Genomic context
- Location:
- 7q32.2
- Sequence:
- Chromosome: 7; NC_000007.14 (130393771..130441741, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEP41 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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