KEGG   NETWORK: N00811
Entry
N00811                      Network                                

Name
CYP7B1 deficiency in bile acid biosynthesis
Definition
Cholesterol -- CYP7B1*
  Expanded
C00187 -- 9420v1
Class
nt06022 Bile acid biosynthesis
Type
Variant
Disease
H00628  Congenital bile acid synthesis defect
Gene
9420  CYP7B1; cytochrome P450 family 7 subfamily B member 1
Variant
9420v1 (CYP7B1*)  CYP7B1 deficiency
Metabolite
C00187  Cholesterol
Reference
  Authors
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
  Title
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
  Journal
Am J Hum Genet 82:510-5 (2008)
DOI:10.1016/j.ajhg.2007.10.001
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