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C8ORF37 encodes a ubiquitously expressed protein of unknown function. Additionally we are shipping and many more products for this protein.
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Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy (show MERTK Antibodies), macular atrophy, cataracts, and high myopia.
Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin.
Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy.
In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement.
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).