Entity Details

Primary name CYP27A1
Entity type gene
Source Source Link

Details

PrimaryID1593
RefseqGeneNG_007959
SymbolCYP27A1
Namecytochrome P450 family 27 subfamily A member 1
Chromosome2
Location2q35
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-03-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCP27A_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005506 iron ion binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0006699 bile acid biosynthetic process
GO:0006707 cholesterol catabolic process
GO:0008203 cholesterol metabolic process
GO:0008395 steroid hydroxylase activity
GO:0016125 sterol metabolic process
GO:0020037 heme binding
GO:0030343 vitamin D3 25-hydroxylase activity
GO:0031073 cholesterol 26-hydroxylase activity
GO:0036378 calcitriol biosynthetic process from calciol
GO:0047748 cholestanetetraol 26-dehydrogenase activity
GO:0047749 cholestanetriol 26-monooxygenase activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
213700 OMIMCerebrotendinous xanthomatosis (CTX)Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. The disease is caused by variants affecting the gene represented in this entry.