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SDCCAG8

From Wikipedia, the free encyclopedia
SDCCAG8
Identifiers
AliasesSDCCAG8, BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8, SHH signaling and ciliogenesis regulator SDCCAG8
External IDsOMIM: 613524; MGI: 1924066; HomoloGene: 4839; GeneCards: SDCCAG8; OMA:SDCCAG8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_029756
NM_001357390

RefSeq (protein)

NP_084032
NP_001344319

Location (UCSC)Chr 1: 243.26 – 243.5 MbChr 1: 176.81 – 177.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Serologically defined colon cancer antigen 8 is a protein that in humans is encoded by the SDCCAG8 gene.[5][6] This protein localizes to the centrioles.[7]

Clinical significance

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Mutations in SDCCAG8 have been found to cause nephronophthisis-related ciliopathies.[7]

Interactions

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SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.[7]

References

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  1. ^ a b c ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026504Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8".
  7. ^ 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

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