KEGG   VARIANT: 9420v1
Entry
9420v1                      Variant                                
Name
CYP7B1 deficiency
Type
Loss of function
Gene
CYP7B1  cytochrome P450 family 7 subfamily B member 1 [KO:K07430]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603711
Network
nt06022  Bile acid biosynthesis
Disease
H00628  Congenital bile acid synthesis defect
Reference
PMID:18252231
  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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