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Cytochrome P450, family 7, subfamily B, polypeptide 1

CYP7B1, oxysterol 7alpha-hydroxylase
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, Cholesterol 7-alpha-Hydroxylase, CAN, HAD, CTX
Papers on CYP7B1
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
New
Dekomien et al., Bochum, Germany. In Mol Cell Probes, Jan 2016
Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and C19orf12 genes (causative for the subtypes SPG5A, SPG39 and SPG43, respectively) in a cohort of 63 unrelated HSP patients with suspected autosomal recessive inheritance.
Breast cancer and (25R)-26-hydroxycholesterol.
Review
New
Javitt, United States. In Steroids, Dec 2015
Among these determinants are the oxysterol binding proteins expressed in macrophages, the level of expression of CYP7B1, the oxysterol 7 alpha hydroxylase that generates an inactive triol, and further oxidation of 27-hydroxycholestrol to the C27 acid by multifunctional CYP27A1.
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
New
Houlden et al., Athens, Greece. In Eur J Hum Genet, Oct 2015
Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, whereas SPG11 and CYP7B1 were the most common cause of autosomal recessive HSP.
SPG5 and multiple sclerosis: clinical and genetic overlap?
New
De Michele et al., Napoli, Italy. In Acta Neurol Scand, Oct 2015
BACKGROUND: Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7α-hydroxylation.
Overexpression of G6PD is associated with high risks of recurrent metastasis and poor progression-free survival in primary breast carcinoma.
Zhang et al., Harbin, China. In World J Surg Oncol, 2014
BACKGROUND: The present study aimed to investigate the expression of CYP27A1, CYP7B1, insulin-like growth factor-1 (IGF-1), glucose-6-phosphate-dehydrogenase (G6PD), glutathione S-transferase P1 (GSTP1), and pyruvate kinase isoform M2 (PKM2) in breast carcinoma tissue and evaluate their prognostic value for progression-free survival (PFS) and overall survival (OS).
Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection.
Clerici et al., Italy. In Retrovirology, 2014
Recently, two genome-wide association studies suggested a role for variants within or in the vicinity of the CYP7B1 gene in modulating HIV susceptibility.
The cholesterol metabolite 27-hydroxycholesterol promotes atherosclerosis via proinflammatory processes mediated by estrogen receptor alpha.
Impact
Shaul et al., Dallas, United States. In Cell Metab, 2014
27-hydroxycholesterol (27HC) is an abundant oxysterol metabolized by CYP7B1.
Steroid signaling: ligand-binding promiscuity, molecular symmetry, and the need for gating.
Review
Kotelevtsev et al., Moscow, Russia. In Steroids, 2014
Gating regulates hormone access via enzymes that preferentially inactivate (or activate) a subclass of ligands, thereby governing which ligands gain receptor access - exemplified by 11β-HSD gating cortisol access to the mineralocorticoid receptor, and P450 CYP7B1 gating Adiol access to ER. Counter-intuitively, the specificity of steroid/sterol action is achieved not by intrinsic binding selectivity but by the combination of local metabolism and binding affinity.
Cytochromes p450 and skin cancer: role of local endocrine pathways.
Review
Tuckey et al., Memphis, United States. In Anticancer Agents Med Chem, 2014
Cutaneous 7-hydroxylases (CYP7A1, CYP7B1 and CYP39) potentially can produce 7-hydroxy/oxy-steroids/sterols with modifying effects on local tumorigenesis.
Oxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responses.
Impact
Cyster et al., San Francisco, United States. In Immunity, 2012
7α,25-OHC is synthesized from cholesterol by the stepwise actions of two enzymes, CH25H and CYP7B1, and is metabolized to a 3-oxo derivative by HSD3B7.
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Review
Stevanin et al., Vienna, Austria. In J Neurol Sci, 2012
Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)).
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
GeneRIF
Bassi et al., Lecco, Italy. In Clin Genet, 2012
Five CYP7B1 mutations, three of which are novel, were identified in four patients with hereditary spastic paraplegia type 5.
Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
GeneRIF
Simons et al., Cardiff, United Kingdom. In J Mol Model, 2012
Description of a homology model for human CYP7B1 that provides valuable information on the active site architecture, along with docking studies that analyzed ligand-binding interactions.
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
GeneRIF
Rouleau et al., Montréal, Canada. In Can J Neurol Sci, 2012
This study deminitrated that CYP7B1 mutations in patients with hereditary spastic paraplegia in French-Canadian.
Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.
GeneRIF
Kasahara et al., Kurume, Japan. In Liver Transpl, 2011
analysis of the first Japanese patient with an oxysterol 7alpha-hydroxylase deficiency associated with compound heterozygous mutations of the CYP7B1 gene [case report]
Oxysterols direct B-cell migration through EBI2.
Impact
Lovenberg et al., San Diego, United States. In Nature, 2011
Blocking the synthesis of 7α,25-OHC in vivo with clotrimazole, a CYP7B1 inhibitor, reduced the content of 7α,25-OHC in the mouse spleen and promoted the migration of adoptively transferred pre-activated B cells to the T/B boundary (the boundary between the T-zone and B-zone in the spleen follicle), mimicking the phenotype of pre-activated B cells from EBI2-deficient mice.
Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.
GeneRIF
Chen et al., In Mov Disord, 2011
We identifies a Chinese family with hereditary spastic paraplegia due to compound heterozygous mutations in the CYP7B1 gene.
New insights into the protective effects of DHEA1).
Morfin et al., In Horm Mol Biol Clin Investig, 2011
In addition, DHEA is hydroxylated at the 7α position by the cytochrome P450 7B1 (CYP7B1), and the 7α-hydroxy-DHEA produced is a substrate for the 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) which converts it into 7β-hydroxy-DHEA.
[Mechanisms of bile acid biosynthesis regulation--autoregulation by bile acids].
Review
Hebanowska, Gdańsk, Poland. In Postepy Biochem, 2010
Some of those factors influence the activities of other bile acids biosynthesis enzymes--CYP7B1, CYP27A1, CYP8B1.
27-Hydroxycholesterol is an endogenous SERM that inhibits the cardiovascular effects of estrogen.
Impact
Mangelsdorf et al., Dallas, United States. In Nat Med, 2007
Furthermore, increasing 27HC levels in mice by diet-induced hypercholesterolemia, pharmacologic administration or genetic manipulation (by knocking out the gene encoding the catabolic enzyme CYP7B1) decreased estrogen-dependent expression of vascular nitric oxide synthase and repressed carotid artery reendothelialization.
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