cytochrome P450 7B1 (CYP7B1, oxysterol 7-alpha-hydroxylase)

Function

• conversion of cholesterol to bile acids 1st (rate-limiting) step

cholest-5-ene-3-beta,25-diol + NADPH + O2
                <-->
cholest-5-ene-3-beta,7-alpha,25-triol + NADP+ + H2O

cholest-5-ene-3-beta,27-diol + NADPH + O2
               <-->
cholest-5-ene-3-beta,7-alpha,27-triol + NADP+ + H2O

Compartment

membrane-bound, endoplasmic reticulum

Expression

• expressed in brain, testis, ovary, prostate, liver, colon, kidney, small intestine.

Genetics

• mutations in CYP7B1 gene are a cause of neonatal hemochromatosis

More general terms

• cytochrome P450

Additional terms

• neonatal hemochromatosis; neonatal giant cell hepatitis

Database

• OMIM: https://mirror.omim.org/entry/603711
• OMIM: https://mirror.omim.org/entry/231100
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9420
• UniProt: http://www.uniprot.org/uniprot/O75881.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9420