SDCCAG8

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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

Interactions

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

References

  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. 3.0 3.1 3.2 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



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