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C8orf37 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).
Gene Name: | Chromosome 8 Open Reading Frame 37 |
Synonyms: | C8orf37, Protein C8orf37, Smalltalk, CORD16, RP64 |
Target Sequences: | NM_177965 NP_808880.1 Q96NL8 |
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