Recombinant Human 25-hydroxycholesterol 7-alpha-hydroxylase (CYP7B1)

1. SPG11 and CYP7B1 were the most common cause of autosomal recessive hereditary spastic paraplegia in Greece. PMID: 26374131
2. miR17 induces epithelial-mesenchymal transition consistent with the cancer stem cell phenotype by regulating CYP7B1 expression in colon cancer. PMID: 27278684
3. The two novel variants cosegregated with pyramidal signs and autoimmune diseases suggesting that they might be susceptibility factors. PMID: 26370385
4. 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). PMID: 26714052
5. Data indicated that the two GWAS-defined variants in the CYP7B1 region do not strongly influence HIV-1 infection susceptibility. PMID: 26399852
6. 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. PMID: 25915148
7. 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. PMID: 24641183
8. 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 PMID: 24658845
9. enduring sensory ataxia can be a pivotal sign in SPG5, and expands the phenotypic spectrum associated with mutations in CYP7B1 PMID: 24519355
10. 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) PMID: 24117163
11. 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. PMID: 24491228
12. investigation of CYP7B1-substrate binding modes PMID: 23180418
13. 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. PMID: 21541746
14. Five CYP7B1 mutations, three of which are novel, were identified in four patients with hereditary spastic paraplegia type 5. PMID: 21214876
15. analysis of the first Japanese patient with an oxysterol 7alpha-hydroxylase deficiency associated with compound heterozygous mutations of the CYP7B1 gene [case report] PMID: 21567895
16. We identifies a Chinese family with hereditary spastic paraplegia due to compound heterozygous mutations in the CYP7B1 gene. PMID: 21452256
17. In Alzheimer's disease (AD). CYP7B mRNA was significantly decreased (approximately 50% decline; P<0.05) in dentate neurons from AD subjects compared with controls. PMID: 14521990
18. Promotor activity of the human oxysterol 7alpha-hydroxylase gene is suppressed by sterol response element binding protein. PMID: 15003524
19. Single polymorphism in the CYP7B1 gene is associated with phenotypic differences in an expression system and a widely different allele frequency in two ethnic populations, with great differences in the incidence of prostate cancer. PMID: 15007371
20. CYP7B catalyzes oxysterol 7alpha-hydroxylation within the human prostate epithelium and an ERbeta-specific agonist, 7HD, is produced. PMID: 15181079
21. the 7-hydroxylation catalysed by P4507B1 preferentially takes place on DHEA, 5alpha-androstane-3beta,17beta-diol and epiandrosterone with major and minor formation of 7alpha- and 7beta-hydroxylated derivatives, respectively [cyp7b1] PMID: 15698543
22. Increased CYP7B activity leads to higher levels of 7alpha-OH-DHEA in synovial fluid which may contribute to the maintenance of chronic inflammation observed in rheumatoid arthritis patients. PMID: 15751070
23. In particular, the data suggest that androgens may control intraprostatic levels of estrogen via regulation of CYP7B1-mediated metabolism. PMID: 16630558
24. Presence of both CYP7B1 and 11beta-HSD1 in human skin. PMID: 17467270
25. Results suggest that -204A/C polymorphism in the CYP7A1 gene does not relate with hypertriglyceridemia but may has an effect on serum triglyceride and apoCIII levels in patients with endogenous HTG. PMID: 17680536
26. Identification of CYP7B1 as a novel ROTalpha (NR1F1) target gene and a functional cross-talk between RORalpha and liver X receptor (NR1H3). PMID: 18055760
27. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. PMID: 18252231
28. tissue-specific steroid concentrations may have a strong impact on CYP7B1-dependent catalysis and thus on the levels of different CYP7B1-related steroids that can influence estrogen receptor beta signaling PMID: 18331353
29. regulation of CYP7B1 by ER can be mediated via the PI3K/Akt signal pathway, a regulatory pathway important for cellular survival and growth, suggest an important role for CYP7B1 in cellular growth, particularly in connection with estrogenic signalling. PMID: 18790053
30. Findings suggest CYP7B1 alterations to represent a rather frequent cause of hereditary spastic paraplegia that should be considered in patients with various clinical presentations. PMID: 18855023
31. screening of SPG5/CYP7B1 seems to have a low diagnostic yield in autosomal recessive and sporadic cases of spastic paraplegia, even in those with complicated clinical features. PMID: 19187859
32. we report the first Italian families with SPG5hereditary spastic paraplegia molecular characterization and describe two novel truncating mutations in CYP7B1. PMID: 19363635
33. Results confirm that CYP7B1 is the gene responsible for Spastic Paraplegia type 5. PMID: 19439420
34. CYP7B1 has multiple physiological functions and a role in liver failure in children and in neuropathy [review] PMID: 19687010
35. CYP7B1-mediated catalysis may play a role for control of the cellular levels of androgens, not only of estrogens. PMID: 19732851

Show More

Hide All

HGNC: 2652

OMIM: 270800

KEGG: hsa:9420

STRING: 9606.ENSP00000310721

UniGene: Hs.657330