KEGG   VARIANT: 1594v1
Entry
1594v1                      Variant                                
Name
CYP27B1 deficiency
Type
Loss of function
Gene
CYP27B1  cytochrome P450 family 27 subfamily B member 1 [KO:K07438]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609506
Network
nt06034  Cholesterol biosynthesis
Disease
H01143  Vitamin D-dependent rickets
Reference
  Authors
Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S
  Title
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.
  Journal
J Biol Chem 280:30511-6 (2005)
DOI:10.1074/jbc.M505244200
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