CEP83 gene

centrosomal protein 83

The information on this page was automatically extracted from online scientific databases.

From UniProt:

Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Nephronophthisis 18

From UniProt:

Nephronophthisis 18 (NPHP18): An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. [MIM:615862]

Cytogenetic Location: 12q22, which is the long (q) arm of chromosome 12 at position 22

Molecular Location: base pairs 94,268,832 to 94,459,991 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q22, which is the long (q) arm of chromosome 12 at position 22
  • CCDC41
  • NPHP18
  • NY-REN-58