Recombinant Human Protein C8orf37 (C8orf37)

1. We conclude that C8orf37 should be added to Bardet-Biedl syndrome (BBS) screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features. PMID: 26854863
2. This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein. PMID: 26865426
3. This is the first functional validation and association of C8ORF37 mutations with the BBS phenotype, which identifies BBS21. The zebrafish studies hereby show that C8ORF37 variants underlie clinically diagnosed BBS-related phenotypes as well as isolated retinal degeneration PMID: 27008867
4. Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. PMID: 25113443
5. Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin. PMID: 25802487
6. Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy. PMID: 23788369
7. 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. PMID: 22177090

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HGNC: 27232

OMIM: 614477

KEGG: hsa:157657

STRING: 9606.ENSP00000286688

UniGene: Hs.548157