Gene Symbol | CEP83 |
Entrez Gene ID | 51134 |
Full Name | centrosomal protein 83 |
Synonyms | CCDC41,NPHP18,NY-REN-58 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2016]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 18, 615862 (3) |