KEGG   NETWORK: N00808
Entry
N00808                      Network                                

Name
CYP27A1 deficiency in bile acid biosynthesis
Definition
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1 >> AKR1C4 >> CYP27A1*
  Expanded
C00187 -- (1581,9420,51302) >> 80270 >> 1582 >> 6718 >> 1109 >> 1593v1
Class
nt06022 Bile acid biosynthesis
Type
Variant
Disease
H00151  Cerebrotendinous xanthomatosis
Gene
1581  CYP7A1; cytochrome P450 family 7 subfamily A member 1
9420  CYP7B1; cytochrome P450 family 7 subfamily B member 1
51302  CYP39A1; cytochrome P450 family 39 subfamily A member 1
80270  HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
1582  CYP8B1; cytochrome P450 family 8 subfamily B member 1
6718  AKR1D1; aldo-keto reductase family 1 member D1
1109  AKR1C4; aldo-keto reductase family 1 member C4
1593  CYP27A1; cytochrome P450 family 27 subfamily A member 1
Variant
1593v1 (CYP27A1*)  CYP27A1 deficiency
Metabolite
C00187  Cholesterol
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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