SDCCAG8

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy.

Serologically Defined Colon Cancer Antigen 8

Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity).
Also plays an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062).

Biological Process cell projection organizationIEA:UniProtKB-KW
Biological Process centrosome cycleIEA:InterPro
Biological Process establishment of cell polarityISS:UniProtKB
Biological Process microtubule organizing center organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neuron migrationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of cilium assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process tube formationISS:UniProtKB

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Cytoplasm, cytoskeleton, cilium basal body
Cell junction
Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.
Isoform 2
Cytoplasm

Senior-Loken syndrome 7 (SLSN7):
A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Bardet-Biedl syndrome 16 (BBS16):
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.