Property Summary

NCBI Gene PubMed Count 52
Grant Count 31
R01 Count 24
Funding $3,793,270.06
PubMed Score 46.12
PubTator Score 65.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Atopic dermatitis 1.100 0.000
intraductal papillary-mucinous carcinoma... -1.400 0.001
lung cancer -2.100 0.000
psoriasis 1.400 0.000
lung carcinoma -1.200 0.000

 GWAS Trait (1)

Gene RIF (40)

PMID Text
26714052 Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
26399852 Data indicated that the two GWAS-defined variants in the CYP7B1 region do not strongly influence HIV-1 infection susceptibility.
25915148 Using an agnostic omics approach to focus on the association of CWP with body mass index, we have confirmed a steroid hormone association and identified a genetic variant upstream of the CYP genes, which likely controls this response.
24658845 The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 alpha-hydroxylase previously reported in a family with hereditary spastic paraplegia type 5
24641183 Spastic paraplegia type 5 has a higher frequency in Taiwanese than in other ethnic groups, associated with a CYP7B1 founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.
24519355 enduring sensory ataxia can be a pivotal sign in SPG5, and expands the phenotypic spectrum associated with mutations in CYP7B1
24491228 21-hydroxy-pregnenolone was identified as a new substrate, and overall low activity toward pregnanes could be related to the increased potency of 7-hydroxy derivatives produced by CYP7B1.
24117163 4 novel mutations described in hereditary spastic paraplegia type 5A: 1 frameshift (c.509 delT p.L170fs), 1 premature stop codon (c.334 C>T p.R112X), 1 amino acid changing (c.440 G>A p.G147D) and 1 duplication (c.945_947 dupGGC p.A316AA)
23180418 investigation of CYP7B1-substrate binding modes
21567895 analysis of the first Japanese patient with an oxysterol 7alpha-hydroxylase deficiency associated with compound heterozygous mutations of the CYP7B1 gene [case report]
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AA Sequence

MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFM      1 - 70
KTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHL     71 - 140
CYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFIS    141 - 210
ELRDDFLKFDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDL    211 - 280
EIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLI    281 - 350
CLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIE    351 - 420
DGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPIGLNYSRLLFG    421 - 490
IQYPDSDVLFRYKVKS                                                          491 - 506
//

Text Mined References (53)

PMID Year Title
26714052 2016 Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
26399852 2015 Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection.
25915148 2015 An omics investigation into chronic widespread musculoskeletal pain reveals epiandrosterone sulfate as a potential biomarker.
24658845 2014 Liver disease in infancy caused by oxysterol 7 ?-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
24641183 2015 Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
24519355 2014 Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
24491228 2014 Human steroid and oxysterol 7?-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
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