About: CYP2C8*5 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C8*5 Allele
rdfs:subClassOf
OMIM_Number
  • 601129
GenBank_Accession_Number
  • NM_000770
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C8*5 Allele
PubMedID_Primary_Reference
  • 15618689
UMLS_CUI
  • C1707192
Legacy_Concept_Name
  • CYP2C8_5_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*5 AlleleSYNCI
  • CYP2C8*5 AllelePTNCI
  • CYP2C8, c.475delASYNCI
  • CYP2C8*5SYNCI
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.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C46033
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