CYP2D6*13 Allele
Human CYP2D6*13 allele, located in the vicinity of 22q13.1, is a variant form of the CYP2D6 wild-type allele and encodes cytochrome P450 2D6*13 protein. The CYP2D6*13 allele, resulting from large deletions (approximately 20 kb) in the CYP2D gene cluster, is a hybrid consisting of exon 1 of the CYP2D7 gene and exons 2-9 of the CYP2D6 gene. CYP2D6*13 allele exhibits an insertion in exon 1 which causes a reading frame shift. This alteration yields a truncated cytochrome P450 2D6*13 protein that is enzymatically inactive. [ ]
Term info
CYP2D6*13 Allele
- CYP2D6*13
- CYP2D6*13 Allele
- Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*13 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Caucasian
CYP2D6*13 Allele
NM_000106
CYP2D6_13_Allele
124030
CYP2D6*13 Allele
8554938
Gene or Genome
C1707209
C46046
Term relations
- CYP2D6 Gene
- Allele_Has_Abnormality some Frameshift Mutation
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_In_Chromosomal_Location some 22q13.1
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Protein Truncation Abnormality
- Allele_Has_Abnormality some Deletion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity