Gene: CEP83

Alternate names for this Gene: CCDC41|NPHP18|NY-REN-58

Gene Summary: The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability.

Gene is located in Chromosome: 12

Location in Chromosome : 12q22

Description of this Gene: centrosomal protein 83

Type of Gene: protein-coding

rs113918189 in CEP83 gene and Chloride measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11107531 in CEP83 gene and Estradiol level result PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs11107531 in CEP83 gene and Estradiol measurement PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs587777487 in CEP83 gene and NEPHRONOPHTHISIS 18 PMID 24882706 2014 Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

rs113918189 in CEP83 gene and Sodium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.