Entity Details

Primary name CYP24A1
Entity type gene
Source Source Link

Details

PrimaryID1591
RefseqGeneNG_008334
SymbolCYP24A1
Namecytochrome P450 family 24 subfamily A member 1
Chromosome20
Location20q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-10-14
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsCP24A_HUMAN

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0005506 iron ion binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006766 vitamin metabolic process
GO:0008403 25-hydroxycholecalciferol-24-hydroxylase activity
GO:0010430 fatty acid omega-oxidation
GO:0020037 heme binding
GO:0030342 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity
GO:0033280 response to vitamin D
GO:0042359 vitamin D metabolic process
GO:0042369 vitamin D catabolic process
GO:0062180 25-hydroxycholecalciferol-23-hydroxylase activity
GO:0062181 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity
GO:0070561 vitamin D receptor signaling pathway
GO:0070643 vitamin D 25-hydroxylase activity

Diseases

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Disease IDSourceNameDescription
143880 OMIMHypercalcemia, infantile, 1 (HCINF1)A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions