|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CYP24A1
|
|
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:CYP24_family
gptkb:CYP_family
|
|
gptkbp:bfsLayer
|
5
|