Gene Symbol | C8orf37 |
Entrez Gene ID | 157657 |
Full Name | chromosome 8 open reading frame 37 |
Synonyms | BBS21,CORD16,RP64,smalltalk |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 64, 614500 (3); Cone-rod dystrophy 16, 614500 (3); Bardet-Biedl syndrome 21, 617406 (3) |