Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)

Stable Identifier
R-HSA-5579013
Type
Pathway
Species
Homo sapiens
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Bile acids are synthesised from cholesterol via two pathways - a classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and an acidic pathway involving 25-hydroxycholesterol 7-alpha-hydroxylase (CYP7B1). Defects in CYP7B1 can cause spastic paraplegia 5A (SPG5A), a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs (Tsaousidou et al. 2008). Defects in CYP7B1 can also cause Congenital bile acid synthesis defect 3 (CBAS3; MIM:613812), a disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic CYP7B1 activity is undetectable (Setchell et al. 1998).

Literature References
PubMed ID Title Journal Year
9802883 Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

Setchell, KD, Schwarz, M, O'Connell, NC, Lund, EG, Davis, DL, Lathe, R, Thompson, HR, Weslie Tyson, R, Sokol, RJ, Russell, DW

J Clin Invest 1998
18252231 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

Tsaousidou, MK, Ouahchi, K, Warner, TT, Yang, Y, Simpson, MA, Laing, NG, Wilkinson, PA, Madrid, RE, Patel, H, Hentati, F, Patton, MA, Hentati, A, Lamont, PJ, Siddique, T, Crosby, AH

Am. J. Hum. Genet. 2008
Participants
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Disease
Name Identifier Synonyms
hereditary spastic paraplegia 2476 Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V
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