CFAP418 cilia and flagella associated protein 418
Gene ID: 157657, updated on 5-Mar-2024Gene type: protein coding
Also known as: RP64; BBS21; MOT25; CORD16; FAP418; C8orf37; smalltalk
- See all available tests in GTR for this gene
- Go to complete Gene record for CFAP418
- Go to Variation Viewer for CFAP418 variants
Summary
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bardet-biedl syndrome 21 | See labs |
| Cone-rod dystrophy 16 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Retinitis pigmentosa | See labs |
Genomic context
- Location:
- 8q22.1
- Sequence:
- Chromosome: 8; NC_000008.11 (95244913..95269201, 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 CFAP418 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C8orf37 @LOVD
- 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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