KEGG   VARIANT: 1593v1
Entry
1593v1                      Variant                                
Name
CYP27A1 deficiency
Type
Loss of function
Gene
CYP27A1  cytochrome P450 family 27 subfamily A member 1 [KO:K00488]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606530
Network
nt06022  Bile acid biosynthesis
Disease
H00151  Cerebrotendinous xanthomatosis
Reference
PMID:8514861
  Authors
Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM
  Title
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
  Journal
J Clin Invest 91:2488-96 (1993)
DOI:10.1172/JCI116484
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