About: CYP2C8*2 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C8*2 Allele
rdfs:subClassOf
OMIM_Number
  • 601129
GenBank_Accession_Number
  • NM_000770
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C8*2 Allele
PubMedID_Primary_Reference
  • 11668219
UMLS_CUI
  • C1707189
SNP_ID
  • rs11572103
Legacy_Concept_Name
  • CYP2C8_2_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*2 AlleleSYNCI
  • CYP2C8, I269FSYNCI
  • CYP2C8*2 AllelePTNCI
  • CYP2C8, c.805A>TSYNCI
  • CYP2C8*2SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C8
DEFINITION
  • Human CYP2C8*2 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*2 protein. The CYP2C8*2 allele exhibits a clinically-relevant SNP (c.805A>T) in exon 5 that results in an I269F coding change. This sequence alteration in the cytochrome P450 2C8*2 protein increases the Km of this enzyme for paclitaxel, thereby decreasing the clearance of this drug.NCI
DesignNote
  • Ethnicity Association: African American
code
  • C46030
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