Literature summary for 1.14.14.29 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.

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Cloned(Commentary)

Cloned (Comment)	Organism
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

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O75881	gene Cyp7B1	-

Synonyms

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

General Information

General Information	Comment	Organism
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
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

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Release 2023.1 (January 2023)