CYP8A1 allele nomenclature

Allele	Protein__	Nucleotide changes, cDNA	Effect	Enzyme activity		References________
				In_vivo	In_vitro
CYP8A1*1A	CYP8A1.1	1117C>A 4 repeats: (CCAGCCCCG)4 in the promoter region		Normal	Normal	Nakayama et al. 1996 Yokoyama et al. 1996
CYP8A1*1B	CYP8A1.1	None				Chevalier et al. 2001
CYP8A1*1C	CYP8A1.1	768G>A				Chevalier et al. 2001
CYP8A1*1D	CYP8A1.1	5 repeats: (CCAGCCCCG)5 in the promoter region			Incr. activity after IL-6 exposure	Chevalier et al. 2001
CYP8A1*1E	CYP8A1.1	6 repeats: (CCAGCCCCG)6 in the promoter region			Incr. activity after IL-6 exposure	Chevalier et al. 2001
CYP8A1*1F	CYP8A1.1	6 repeats with 1 aberrant: CCAGCCCCG TCAGCCCCG (CCAGCCCCG)4 in the promoter region			Incr. activity after IL-6 exposure	Chevalier et al. 2001
CYP8A1*1G	CYP8A1.1	7 repeats: (CCAGCCCCG)7 in the promoter region				Chevalier et al. 2002
CYP8A1*1H	CYP8A1.1	7 repeats with 1 aberrant: CCAGCCCCG TCAGCCCCG (CCAGCCCCG)5 in the promoter region				Chevalier et al. 2002
CYP8A1*1J	CYP8A1.1	8 repeats: (CCAGCCCCG)8 in the promoter region				Chevalier et al. 2002
CYP8A1*1K	CYP8A1.1	9 repeats with 1 aberrant: CCAGCCCCG TCAGCCCCG (CCAGCCCCG)7 in the promoter region				Chevalier et al. 2002
CYP8A1*1L	CYP8A1.1	3 repeats: (CCAGCCCCG)3 in the promoter region				Chevalier et al. 2002
CYP8A1*2	CYP8A1.2	113C>T	P38L			Chevalier et al. 2001
CYP8A1*3	CYP8A1.3	354T>A	S118R			Chevalier et al. 2001
CYP8A1*4	CYP8A1.4	1135C>A	R379S			Chevalier et al. 2001

Changes made since the last update (13-Nov-2007) 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

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