SDCCAG8
Function
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).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.
Cellular localization
- 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
Alternative names
CCCAP, NPHP10, HSPC085, SDCCAG8, Serologically defined colon cancer antigen 8, Antigen NY-CO-8, Centrosomal colon cancer autoantigen protein, hCCCAP