CYP26A1 allele nomenclature

Allele

Protein

Nucleotide changes

Effect

Enzyme activity

References

cDNA

Gene

In vivo

In vitro

CYP26A1*1

CYP26A1.1

None

None

 

Normal

Normal

 

CYP26A1*2

CYP26A1.2

517C>A

947C>A

R173S

 

 

Lee et al., 2007

CYP26A1*3

CYP26A1.3

558C>A

988C>A

F186L

 

Decr.

Lee et al., 2007

CYP26A1*4

CYP26A1.4

1072T>C

2682T>C

C358R

 

Decr.

Lee et al., 2007

Changes made since the last update (new web page) are marked in red.

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

OMIM GeneCards