full name
cytochrome P450 family 2 subfamily R member 1

synonyms
CYP2R1, ENSG00000186104

HGNC
HGNC:20580

Entrez Gene
Gene:120227

ENSEMBL
ENSG00000186104
ENSG00000262968

location
chr: 11
start: 14899551
stop: 14913874
strand: -

OMIM
OMIM:608713: CYP2R1 (Autosomal recessive inheritance)
OMIM:600081: Rickets due to defect in vitamin D 25-hydroxylation

transcripts
NM_024514.4

pathways
Biological oxidations [NCBI:1270189] [REACTOME:R-HSA-211859]
Cholecalciferol biosynthesis [NCBI:413391] [KEGG:hsa_M00103]
Cytochrome P450 - arranged by substrate type [NCBI:1270191] [REACTOME:R-HSA-211897] [PUBMED:16584116] [PUBMED:15102545] [PUBMED:12369887]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:22516726] [PUBMED:15951480] [PUBMED:16011460]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Phase 1 - Functionalization of compounds [NCBI:1270190] [REACTOME:R-HSA-211945] [PUBMED:12369887] [PUBMED:17125408] [PUBMED:16584116]
Steroid biosynthesis [NCBI:82937] [KEGG:hsa00100] [PUBMED:16531502] [PUBMED:12777052]
Vitamin D (calciferol) metabolism [NCBI:1270052] [REACTOME:R-HSA-196791] [PUBMED:15951480]
Vitamins [NCBI:1270199] [REACTOME:R-HSA-211916] [PUBMED:15102545] [PUBMED:16584116]