CRB1 crumbs cell polarity complex component 1
Gene ID: 23418, updated on 16-Apr-2024Gene type: protein coding
Also known as: LCA8; RP12; CRB1-A; CRB1-B; CRB1-C
- See all available tests in GTR for this gene
- Go to complete Gene record for CRB1
- Go to Variation Viewer for CRB1 variants
Summary
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leber congenital amaurosis 8 MedGen: C3151202OMIM: 613835GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | See labs |
| Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. GeneReviews: Not available | |
| Pigmented paravenous retinochoroidal atrophy | See labs |
| Retinitis pigmentosa 12 | See labs |
| Variants of DENND1B associated with asthma in children. GeneReviews: Not available |
Genomic context
- Location:
- 1q31.3
- Sequence:
- Chromosome: 1; NC_000001.11 (197201504..197478455)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CRB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CRB1 @ 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
- Variation ViewerRelated Variants
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