Gene: [02p21/CYP1B1] cytochrome P450, subfamily IB (dioxin-inducible), polypeptide 1; glaucoma 3, primary infantile, A (buphtalmos; MIM:231300);

COM

Tang et al. (Tang-1996) defined the mapping of CYP1B1 to Chr 2p22-21 by fluorescence in situ hybridization."

GEN

The CYP1B1 gene contains 3 exons and 2 introns. The putative open reading frame started in the second exon and was 1,629 bp in length. Human CYP1B1 differs from its 2 most closely related members of the cytochrome P450 superfamily, CYP1A1 (GEM:15q2/CYP1A1) and CYP1A2 (GEM:15q2/CYP1A2), in the number of exons (3 versus 7) and chromosomal location (Chr 2 versus Chr 15). A single transcription initiation site was identified. Based on nucleotide sequence analysis, the CYP1B1 gene lacks a consensus TATA box in the promoter region and contains 9 TCDD-responsive enhancer core binding motifs located within a 2.5-kb pair of genomic fragments 5-prime-ward of the transcription start site (Tang-1996)."

REF

PAT,PHE,HET "Gencik A &: Clin Genet, 17, N4, 241-248, 1980
PAT,LOC,LIN,HET "Sarfarazi M &: Genomics, 30, 171-177, 1995
CLO,SEQ,LOC "Sutter TR &: JBC, 269, N18, 13092-13099, 1994
CLO,EXP "Tang YM &: JBC, 271, N45, 28324-28330, 1996

KEY

xen, eye

CLA

coding, basic

LOC

02 p21

MIM

 MIM: 601771

EZN

 ENZYME: 1.14.14.1

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