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Literature summary extracted from

  • Arnoldi, A.; Crimella, C.; Tenderini, E.; Martinuzzi, A.; D'Angelo, M.G.; Musumeci, O.; Toscano, A.; Scarlato, M.; Fantin, M.; Bresolin, N.; Bassi, M.T.
    Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations (2012), Clin. Genet., 81, 150-157.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.14.29 CYP7B1 genotyping and screening for CYP7B1 mutations in a large cohort of 105 Italian HSP index patients, including 50 patients with a complicated phenotype and 55 with a pure form, overall mutation frequencies of CYP7B1, overview Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.29 G443A c.1328G-C, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 Homo sapiens
1.14.14.29 G87V c.260G-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 Homo sapiens
1.14.14.29 H285L c.854A-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 Homo sapiens
1.14.14.29 R324H c.971G-A, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.14.14.29 Homo sapiens O75881 gene Cyp7B1
-

Synonyms

EC Number Synonyms Comment Organism
1.14.14.29 CYP7B1
-
 Homo sapiens
1.14.14.29 cytochrome P-450 oxysterol 7-alpha-hydroxylase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.14.29 metabolism CYP7B1 is an enzyme expressed in many human tissues and implicated in cholesterol metabolism. In the liver, this protein is part of the alternate/acidic pathway for primary bile acid production while in brain, CYP7B1 provides the primary metabolic route for cholesterol derivatives dehydroepiandrosterone and related hydroxysteroids via 7alpha-hydroxylation Homo sapiens
1.14.14.29 additional information spastic paraplegia type 5, SPG5, is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-alpha-hydroxylase, CYP7B1, an enzyme implicated in cholesterol metabolism. Mutations in CYP7B1 are found in both pure and complicated forms of the disease, clinical phenotypes, overview Homo sapiens