Preferred Label : CYP2C9*5 Allele;
NCIt synonyms : CYP2C9, D360E; CYP2C9*5; CYP2C9, c.1080C G; Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*5 Allele; CYP2C9 5 Allele;
NCIt definition : Human CYP2C9*5 allele is located within 10q24 and is approximately 33 kb in length.
This allele, a variant form of the CYP2C9 wild-type allele, encodes cytochrome P450
2C9*5 protein. The CYP2C9*5 allele exhibits a clinically-relevant SNP (c.1080C G)
in exon 7 that results in a D360E coding change. This alteration in the cytochrome
P450 2C9*5 protein sequence increases the Km of this enzyme for (S)-warfarin, diclofenac,
and lauric acid, thereby decreasing clearance of these drugs.;
NCIt note : Ethnicity Association: African American;
GenBank Accession Number : NM_000771;
PubMed : 15289788;
Origin ID : C45615;
UMLS CUI : C1707204;
OMIM relation
- Semantic type(s)
- allele_has_abnormality
- allele_has_activity
- allele_in_chromosomal_location
- allele_plays_altered_role_in_process
- concept_is_in_subset
- gene_found_in_organism
- gene_plays_role_in_process
