SDCCAG8

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SDCCAG8
Identifiers
Aliases SDCCAG8, BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8
External IDs MGI: 1924066 HomoloGene: 4839 GeneCards: SDCCAG8
Genetically Related Diseases
schizophrenia, morbid obesity[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006642

NM_029756

RefSeq (protein)

NP_006633

NP_084032.1
NP_084032

Location (UCSC) Chr 1: 243.26 – 243.5 Mb Chr 1: 176.81 – 177.02 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Serologically defined colon cancer antigen 8 is a protein that in humans is encoded by the SDCCAG8 gene.[4][5] This protein localizes to the centrioles.[6]

Clinical significance[edit]

Mutations in SDCCAG8 have been found to cause nephronophthisis-related ciliopathies.[6]

Interactions[edit]

SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.[6]

References[edit]

  1. ^ "Diseases that are genetically associated with SDCCAG8 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8". 
  6. ^ 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 2947620Freely accessible. PMID 20835237. 

Further reading[edit]