TMEM231 transmembrane protein 231
Gene ID: 79583, updated on 5-Mar-2024Gene type: protein coding
Also known as: MKS11; JBTS20; ALYE870; PRO1886
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM231
- Go to Variation Viewer for TMEM231 variants
Summary
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial aplasia of the vermis MedGen: C0431399GeneReviews: Joubert Syndrome | See labs |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Joubert syndrome 20 | See labs |
| Meckel syndrome, type 11 | See labs |
Genomic context
- Location:
- 16q23.1
- Sequence:
- Chromosome: 16; NC_000016.10 (75536741..75556286, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM231 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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