KEGG   VARIANT: 120227v1
Entry
120227v1                      Variant                              
Name
CYP2R1 deficiency
Type
Loss of function
Gene
CYP2R1  cytochrome P450 family 2 subfamily R member 1 [KO:K07419]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608713
Network
nt06034  Cholesterol biosynthesis
Disease
H01143  Vitamin D-dependent rickets
Reference
PMID:15128933
  Authors
Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW
  Title
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
  Journal
Proc Natl Acad Sci U S A 101:7711-5 (2004)
DOI:10.1073/pnas.0402490101
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