CLRN1 clarin 1
Gene ID: 7401, updated on 17-Jun-2024Gene type: protein coding
Also known as: RP61; USH3; USH3A
- See all available tests in GTR for this gene
- Go to complete Gene record for CLRN1
- Go to Variation Viewer for CLRN1 variants
Summary
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 3q25.1
- Sequence:
- Chromosome: 3; NC_000003.12 (150926163..150972999, complement)
- Total number of exons:
- 6
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CLRN1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- CLRN1 @ LOVD
- 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
- T1DBase Type 1 diabetes
- Variation ViewerRelated Variants
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