Gene: CYP7B1
Alternate names for this Gene: CBAS3|CP7B|SPG5A
Gene Summary: 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. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder.
Gene is located in Chromosome: 8
Location in Chromosome : 8q12.3
Description of this Gene: cytochrome P450 family 7 subfamily B member 1
Type of Gene: protein-coding
rs10808739 in
CYP7B1 gene and
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
PMID 22174851 2011 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
rs10808739 in
CYP7B1 gene and
AIDS, PROGRESSION TO
PMID 22174851 2011 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
rs72656469 in
CYP7B1 gene and
Adverse effects, not elsewhere classified
PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.
rs10808739 in
CYP7B1 gene and
HIV-1, RESISTANCE TO
PMID 22174851 2011 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
rs10808739 in
CYP7B1 gene and
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
PMID 22174851 2011 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
rs10808739 in
CYP7B1 gene and
IMMUNODEFICIENCY 31B
PMID 22174851 2011 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
rs7837935 in
CYP7B1 gene and
Major Depressive Disorder
PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.
rs116171274 in
CYP7B1 gene and
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PMID 22384504 2012 CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
PMID 24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
PMID 19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
PMID 18252231 2008 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
PMID 26714052 2016 Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
PMID 21214876 2012 Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
PMID 21567895 2011 Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.
PMID 21541746 2012 Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
PMID 24658845 2014 Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
PMID 21452256 2011 Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.
rs116171274 in
CYP7B1 gene and
Spastic Paraplegia
PMID 19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
PMID 21541746 2012 Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
PMID 24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
PMID 24519355 2014 Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
PMID 21214876 2012 Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
PMID 18252231 2008 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
PMID 9802883 1998 Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
PMID 19812052 2010 Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.
PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
rs116171274 in
CYP7B1 gene and
Spastic Paraplegia, Hereditary
PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
rs2280870 in
CYP7B1 gene and
Systolic Pressure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.