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CYP24A1

Chr 20q13.2

cytochrome P450 family 24 subfamily A member 1

Aliases:
CP24, P450-CC24, lncBCAS1-4_1
MANE:
ENST00000216862.8
OMIM: 126065 ↗NCBI: 1591 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cystic kidney disease

    BIALLELIC, autosomal or pseudoautosomal

  • Nephrocalcinosis or nephrolithiasis

    BIALLELIC, autosomal or pseudoautosomal

  • Renal tubulopathies

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Mitochondrial disorders

Disease associations (Open Targets)

  • Autosomal recessive infantile hypercalcemia

    0.80

  • hypercalcemia, infantile

    0.56

  • nephrolithiasis

    0.55

  • atopic eczema

    0.53

  • ureterolithiasis

    0.50

  • neurodegenerative disease

    0.48

  • bladder calculus

    0.47

  • hereditary disease

    0.47

  • multiple sclerosis

    0.46

  • urolithiasis

    0.45

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:11012668, PubMed:15574355, PubMed:16617161, PubMed:24893882, PubMed:29461981, PubMed:8679605). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:15574355, PubMed:24893882). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605)

Diseases associated with CYP24A1

Curated MONDO disease pages that list CYP24A1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.