" /> CYP2C8*5 Allele - CISMeF





Preferred Label : CYP2C8*5 Allele;

NCIt synonyms : CYP2C8*5; Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*5 Allele; CYP2C8, c.475delA; CYP2C8 5 Allele;

NCIt definition : Human CYP2C8*5 allele is located in the vicinity of 10q23.33 and is approximately 33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes cytochrome P450 2C8*5 protein. The CYP2C8*5 allele exhibits a clinically-relevant single nucleotide deletion (c.475delA), resulting in a coding frameshift that is predicted to cause amino acid alterations from codon 159 and an early stop codon at residue 477. The cytochrome P450 2C8*5 protein is predicted to be enzymatically inactive since it lacks 64% of the protein coding structure, a region which includes the heme binding site and 5 out of 6 substrate recognition sites.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000770;

PubMed : 15618689;

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24/04/2024


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