Gene table of CYP24A1 : cytochrome P450 family 24 subfamily A member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CYP24A1	OMIM link	Number of associated genes	genes
PS143880	HYPERCALCEMIA, INFANTILE	OMIM, HUMSAVAR	link to OMIM	1	CYP24A1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cytochrome P450 - arranged by substrate type	R-HSA-211897	7.08
Metabolism of steroid hormones and vitamin D	R-HSA-196071	7.89
Biological oxidations	R-HSA-211859	5.55
Vitamins	R-HSA-211916	10.4
Vitamin D (calciferol) metabolism	R-HSA-196791	10.18
Diseases of metabolism	R-HSA-5668914	6.57
Phase 1 - Functionalization of compounds	R-HSA-211945	6.7
Metabolism	R-HSA-1430728	2.34
Disease	R-HSA-1643685	3.33
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)	R-HSA-5579010	12.98
Metabolic disorders of biological oxidation enzymes	R-HSA-5579029	7.85

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
monooxygenase activity	GO:0004497	5.1
transition metal ion binding	GO:0046914	2.48
heme binding	GO:0020037	4.86
tetrapyrrole binding	GO:0046906	4.8
organic cyclic compound binding	GO:0097159	1.05
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
ion binding	GO:0043167	1.36
1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	GO:0030342	9.74
catalytic activity	GO:0003824	1.05
vitamin D 24-hydroxylase activity	GO:0070576	8.64
binding	GO:0005488	0.18
25-hydroxycholecalciferol-24-hydroxylase activity	GO:0008403	9.74
iron ion binding	GO:0005506	4.65
metal ion binding	GO:0046872	1.41
heterocyclic compound binding	GO:1901363	1.06
oxidoreductase activity	GO:0016491	3.12