Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:CYP24
CYP24A P450CC24 |
| gptkbp:associatedWith |
idiopathic infantile hypercalcemia
|
| gptkbp:encodes |
Vitamin D3 24-hydroxylase
|
| gptkbp:Entrez_Gene_ID |
ENSG00000160347
|
| gptkbp:expressedIn |
gptkb:kidney
liver intestine |
| gptkbp:fullName |
cytochrome P450 family 24 subfamily A member 1
|
| gptkbp:function |
catalyzes the 24-hydroxylation of 1,25-dihydroxyvitamin D3
involved in vitamin D metabolism |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2597
|
| gptkbp:locatedOnChromosome |
gptkb:20q13.2
chromosome 20 |
| gptkbp:mutationAssociatedWith |
gptkb:hypercalcemia
nephrocalcinosis nephrolithiasis |
| gptkbp:OMIM |
126065
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Cyp24a1
|
| gptkbp:pathway |
vitamin D metabolic pathway
|
| gptkbp:RefSeq |
NM_000782
|
| gptkbp:regulates |
induced by 1,25-dihydroxyvitamin D3
regulated by parathyroid hormone |
| gptkbp:UniProtID |
Q07973
|
| gptkbp:bfsParent |
gptkb:VDR
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
CYP24A1
|