SDCCAG8
From Infogalactic: the planetary knowledge core
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Serologically defined colon cancer antigen 8 | |||||||||||||
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Identifiers | |||||||||||||
Symbols | SDCCAG8 ; BBS16; CCCAP; CCCAP SLSN7; HSPC085; NPHP10; NY-CO-8; SLSN7; hCCCAP | ||||||||||||
External IDs | OMIM: 613524 MGI: 1924066 HomoloGene: 4839 GeneCards: SDCCAG8 Gene | ||||||||||||
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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: 243.26 – 243.5 Mb |
Chr 1: 176.81 – 177.02 Mb |
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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
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
Further reading
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