SDCCAG8

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Serologically defined colon cancer antigen 8
Identifiers
Symbols SDCCAG8 ; BBS16; CCCAP; CCCAP SLSN7; NPHP10; NY-CO-8; SLSN7; hCCCAP
External IDs OMIM613524 MGI1924066 HomoloGene4839 GeneCards: SDCCAG8 Gene
Orthologs
Species Human Mouse
Entrez 10806 76816
Ensembl ENSG00000054282 ENSMUSG00000026504
UniProt Q86SQ7 Q80UF4
RefSeq (mRNA) NM_006642 NM_029756
RefSeq (protein) NP_006633 NP_084032
Location (UCSC) Chr 1:
243.42 – 243.66 Mb
Chr 1:
176.81 – 177.02 Mb
PubMed search [1] [2]

Serologically defined colon cancer antigen 8 is a protein that in humans is encoded by the SDCCAG8 gene.[1][2] This protein localizes to the centrioles.[3]

Clinical significance[edit]

Mutations in SDCCAG8 have been found to cause nephronophthisis-related ciliopathies.[3]

Interactions[edit]

SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.[3]

References[edit]

  1. ^ Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Tureci O, Sahin U, Pfreundschuh M, Old LJ (Jun 1998). "Characterization of human colon cancer antigens recognized by autologous antibodies". Int J Cancer 76 (5): 652–8. doi:10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P. PMID 9610721. 
  2. ^ "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8". 
  3. ^ a b c Otto EA, Hurd TW, Airik R, et al. (October 2010). "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy". Nat. Genet. 42 (10): 840–50. doi:10.1038/ng.662. PMC 2947620. PMID 20835237. 


Further reading[edit]