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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP24A1 Gene

protein-coding GIFtS: 65
GCID: GC20M052769

cytochrome P450, family 24, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)...)
(Previous symbol: CYP24)

Explore 48 diseases affiliated with
CYP24A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 24, Subfamily A, Polypeptide 1¹ ²		24-OHase² ³
CYP24¹ ² ³ ⁵		1,25-@Dihydroxyvitamin D3 24-Hydroxylase²
CP24¹ ²		1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial²
P450-CC24¹ ²		HCAI²
Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase)¹ ²		Exo-Mitochondrial Protein²
Cytochrome P450 24A1² ³		Vitamin D 24-Hydroxylase²
Cytochrome P450-CC24² ³		EC 1.14.13.126³
Vitamin D(3) 24-Hydroxylase² ³

External Ids:	HGNC: 2602¹	Entrez Gene: 1591²	Ensembl: ENSG00000019186⁷	OMIM: 126065⁵	UniProtKB: Q07973³

Export aliases for CYP24A1 gene to outside databases

Previous GC identifers: GC20M052458 GC20M053408 GC20M053455 GC20M052203 GC20M049516

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP24A1:

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are

monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and

other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically

active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme

plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Function: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol

(25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of

hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to

1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product

Gene Wiki entry for CYP24A1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP24A1 gene promoter:
AML1a AP-1 ATF-2 FOXD3 YY1 C/EBPalpha CREB AREB6 deltaCREB c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP24A1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP24A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP24A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13 Ensembl cytogenetic band: 20q13.2 HGNC cytogenetic band: 20q13.2-q13.3

CYP24A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP24A1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M052769: view genomic region (about GC identifiers)

Start:	52,769,988 bp from pter	End:	52,790,516 bp from pter
Size:	20,529 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973 (See protein sequence)

Recommended Name: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial precursor

Size: 514 amino acids; 58875 Da

Cofactor: Heme group (By similarity)

Subcellular location: Mitochondrion

Secondary accessions: Q15807 Q32ML3

Alternative splicing: 2 isoforms: Q07973-1 Q07973-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP24A1: NX_Q07973

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q07973

CYP24A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000773.2 NP_001122387.1

ENSEMBL proteins:

ENSP00000216862 ENSP00000379285 ENSP00000379284

Reactome Protein details: Q07973
Human Recombinant Protein Products:

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	Uscn Proteins for CYP24A1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	TAS	--

CYP24A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CYP24A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP24A1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry Q07973

ProtoNet protein and cluster: Q07973

1 Blocks protein family: IPB002949 CC24 mitochondrial P450 signature

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Function: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol

(25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of

hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to

1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product

Catalytic activity: Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O

Catalytic activity: Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O

Enzyme Number (IUBMB): EC 1.14.13.126¹

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		hsa-miR-3671 hsa-miR-30c hsa-miR-125a-5p hsa-miR-571 hsa-miR-30d hsa-miR-3144-3p hsa-miR-374a* hsa-miR-144

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP24A1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	--	--
GO:0005506	iron ion binding	IEA	--
GO:0008403	25-hydroxycholecalciferol-24-hydroxylase activity	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0016491	oxidoreductase activity	NAS	7632726

CYP24A1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CYP24A1:

Cell cycle / mitosis defect

Animal Models:
Mouse knock-out Cyp24a1^tm1Star for CYP24A1
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp24a1):

growth/size	homeostasis/metabolism	mortality/aging	renal/urinary system	reproductive system
skeleton

CYP24A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Vitamin D2 (ergocalciferol) metabolism

	Vitamin D2 (ergocalciferol) metabolism	1.00			Vitamin D synthesis	0.40
	Vitamin D2 (ergocalciferol) metabolism	1.00			Vitamins	0.33

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Vitamin D (calciferol) metabolism

	Vitamin D (calciferol) metabolism	1.00			Metabolism of steroid hormones and vitamin D	0.27
	Steroid hormones	0.27

Transcription_Role of VDR in regulation of genes involved in osteoporosis

Transcription_Role of VDR in regulation of genes involved in osteoporosis

1.00

Transcription Role of VDR in regulation of genes involved in osteoporosis

0.80

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for CYP24A1

	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Vitamin D2 (ergocalciferol) metabolism

2 GeneGo (Thomson Reuters) Pathways for CYP24A1

	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Vitamin D2 (ergocalciferol) metabolism

4 BioSystems Pathways for CYP24A1

	Vitamin D synthesis
	cytochrome P450
	Nuclear receptors in lipid metabolism and toxicity
	metapathway biotransformation

5/9 Reactome Pathways for CYP24A1 (see all 9)

	Cytochrome P450 - arranged by substrate type
	Metabolism
	Steroid hormones
	Vitamin D (calciferol) metabolism
	Metabolism of steroid hormones and vitamin D

CYP24A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP24A1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/6 Interacting proteins for CYP24A1 (Q07973^{2, 3} ENSP00000216862⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CITED1	Q99966³, ENSP00000388548⁴	I2D: score=1 STRING: ENSP00000388548
TP53	P04637³, ENSP00000269305⁴	I2D: score=1 STRING: ENSP00000269305
VDR	P11473³, ENSP00000229022⁴	I2D: score=1 STRING: ENSP00000229022
TARBP2	Q15633³	I2D: score=2
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001649	osteoblast differentiation	IEP	17023519
GO:0006766	vitamin metabolic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0008202	steroid metabolic process	TAS	--
GO:0033280	response to vitamin D	IDA	16720713

CYP24A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP24A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP24A1

9 HMDB Compounds for CYP24A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcidiol	25-Hydroxyvitamin D3 (see all 11)	19356-17-3	--
Calcitriol	(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol (see all 19)	32222-06-3	--
Calcium	Ca (see all 2)	7440-70-2	--
Ercalcitriol	1,25-Dihydroxycalciferol (see all 7)	60133-18-8	--
Ergocalciferol	(+)-Vitamin D2 (see all 72)	50-14-6	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Vitamin D3	(+)-Vitamin D3 (see all 32)	67-97-0	--

6 DrugBank Compounds for CYP24A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ergocalciferol	Synthetic Vitamin D Vitamin D2 (see top 1)	50-14-6	enzyme	substrate	15574355 15764712 16816472 11686044 16516540
Calcitriol	1,25-(OH)₂D3 1,25-dihydroxycholecalciferol (see top 1)	32222-06-3	enzyme	substrate inducer	20619365 19934256
Calcidiol	Calcifediol Calcifediol Anhydrous Calcifediolum [INN-Latin] Calcifidiol (see top 1)	19356-17-3	enzyme	substrate	19934256
Calcipotriol	--	112965-21-6	enzyme	substrate	16886668
Corticotropin	ACTH Adrenocorticotopin Adrenocorticotropic hormone Corticotrophin Cortrophin (see top 1)	9002-60-2	enzyme	inducer	19920212
Paricalcitol	--	131918-61-1	enzyme	substrate	15733015

10/29 Novoseek chemical compound relationships for CYP24A1 gene (see all 29) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcitroic acid	91.3	5	11686044 (1), 15574355 (1), 17646648 (1), 16816472 (1) (see all 5)
vitamin d	90.9	152	11179754 (4), 19237542 (3), 14760115 (3), 14648702 (2) (see all 81)
calcitriol	90.9	96	17368180 (6), 16708384 (4), 12027461 (4), 12914530 (3) (see all 40)
1,25 dihydroxy vitamin d3	90.6	38	15225756 (3), 16457885 (2), 19922790 (2), 15836435 (2) (see all 24)
25-hydroxyvitamin d	89.7	42	11686044 (2), 16600026 (2), 11012668 (2), 17395559 (2) (see all 27)
1,24,25-trihydroxyvitamin d3	88.2	3	12504896 (1), 9165006 (1)
bm 15766	82.5	4	16598763 (2), 16824767 (2)
24,25-dihydroxyvitamin d3	82.3	3	12504896 (1), 9165006 (1)
paricalcitol	69.8	1	16371233 (1)
7-dehydrocholesterol	61.5	3	16598763 (1), 16824767 (1)

Search CenterWatch for drugs/clinical trials and news about CYP24A1 / CP24A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP24A1 gene (2 alternative transcripts):

NM_000782.4 NM_001128915.1

Unigene Cluster for CYP24A1:

Cytochrome P450, family 24, subfamily A, polypeptide 1

Hs.89663 [show with all ESTs]

Unigene Representative Sequence: NM_000782

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216862(uc002xwu.1 uc002xwv.2 uc002xww.2) ENST00000395955

ENST00000460643 ENST00000395954 ENST00000487593 ENST00000472970

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Additional cDNA sequence:

AY858838.1 BC109083.1 BC109084.1 L13286.1 S67623.1

6 DOTS entries:

DT.99972261 DT.91986788 DT.75108883 DT.311476 DT.75100645 DT.91696137

24/29 AceView cDNA sequences (see all 29):

BM928702 AW205073 AA877213 BU662901 AW194692 N29030 BF356900 BG401173

BX109503 AW206049 NM_000782 L13286 AI400154 AW237530 N20655 CD013988

S67623 BF800401 N21576 AI928330 N30976 BI491491 H82378 AW022233

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CYP24A1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b	^	12a	·	12b	·	12c	·	12d
SP1:									-		-														-								-				-
SP2:									-		-														-						-		-				-
SP3:																									-								-				-
SP4:
SP5:

ECgene alternative splicing isoforms for CYP24A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP24A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATACTTAT

About this image
See CYP24A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP24A1

SOURCE GeneReport for Unigene cluster: Hs.89663

SABiosciences Expression via Pathway-Focused PCR Array including CYP24A1:

Drug Metabolism: Phase I Enzymes in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CYP24A1 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CYP24A1¹	cytochrome P450, family 24, subfamily A, polypeptide more	70.93(n) 71.75(a)		395827 NM_204979.1 NP_990310.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	77(a) 77(a)	1 ↔ many 1 ↔ many	AAWZ02036255(2025-12955) GL343716.1(170404-185061)
zebrafish (Danio rerio)	Actinopterygii	cyp24a1¹	cytochrome P450, family 24, subfamily A, polypeptide more	66.59(n) 70.33(a)		100004700 NM_001089458.1 NP_001082927.1
fruit fly (Drosophila melanogaster)	Insecta	Cyp12b2¹	CG15077-PA	43.46(n) 28.38(a)		37163 NM_137526.3 NP_611370.2
worm (Caenorhabditis elegans)	Secernentea	cyp-44A1¹	Protein CYP-44A1	41.76(n) 29.84(a)		173936 NM_062651.2 NP_495052.1

ENSEMBL Gene Tree for CYP24A1 (if available)
TreeFam Gene Tree for CYP24A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP24A1 gene

CYP11A1² CYP27A1² CYP11B1² CYP11B2² CYP27C1² CYP27B1²

7 SIMAP similar genes for CYP24A1 using alignment to 1 protein entry: CP24A_HUMAN:

CYP24 CYP27C1 CYP27A1 CYP11B2 CYP11B1 CYP27B1

CYP11A1

CYP24A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79010878^1,2	F,	--	49516161(+)	`TGAAAT/CGGTTC`	2	--	ds500¹		1		WA	118
rs73912629^1,2	C,	--	49516232(+)	`AGAACA/GGGCTC`	2	--	ds500¹		2		WA	120
rs927649^1,2	C,F,A,	--	49516280(+)	`TGTGTG/AACTGA`	2	--	ds500¹		1		NA	120
rs6013904^1,2	F,	--	49516302(+)	`GAAAGG/TGGGTA`	2	--	ds500¹		1		WA	118
rs201783270^1,2	C	--	49516610(+)	`CAAGAC/TGTGAA`	2	--	ut3¹		0	--	--	--	--
rs111801935^1,2	C	--	49516611(+)	`AAGACA/GTGAAT`	2	--	ut3¹		0	--	--	--	--
rs11907350^1,2	C,F,H,	--	49516995(+)	`GGCATG/AGGAAA`	2	--	ut3¹ ese³		25		NA NS EA WA CSA	2464
rs75213738^1,2	C,F,	--	49517151(+)	`ATACAC/TGGACA`	2	--	ut3¹		1		WA	118
rs16999060^1,2	C,F,H,	--	49517429(+)	`GGGAGG/ACCTGA`	2	--	ut3¹ ese³		11		NA NS EA WA	1348
rs55815122^1,2	C	--	49517649(-)	`GGTTAA/C/GAAACC`	4	--	ut3¹		1		CSA	1

HapMap Linkage Disequilibrium report for CYP24A1 (52769988 - 52790516 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CYP24A1
1 Indel: 73531
Human Gene Mutation Database (HGMD): CYP24A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP24A1

DNA2.0 Custom Variant and Variant Library Synthesis for CYP24A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CYP24A1 for disorders About GeneDecksing

OMIM gene information: 126065 OMIM disorders: --

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Defects in CYP24A1 are the cause of hypercalcemia infantile (HCAI) [MIM:143880]. HCAI is a disorder

characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and

nephrocalcinosis

20/48 diseases for CYP24A1 (see all 48): About MalaCards

pseudovitamin d deficiency rickets rickets cholesterol hypercalcemia, infantile

renal clear cell carcinoma osteomalacia arterial calcification myeloid leukemia

hypercalcemia basal cell carcinoma acute myeloid leukemia nephrocalcinosis

hypercalciuria squamous cell carcinoma osteoporosis colon carcinoma

carcinoma gigantism colon cancer multiple sclerosis

1 disease from the University of Copenhagen DISEASES database for CYP24A1:

Rickets

10/24 Novoseek disease relationships for CYP24A1 gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rickets	64	2	8266831 (1), 15544953 (1)
rickets hypophosphatemic	57.8	1	16753019 (1)
prostate cancer	40.2	15	12270218 (2), 12485911 (2), 17368180 (2), 15538745 (1) (see all 8)
osteomalacia	36.6	4	16691293 (3), 15630458 (1)
breast cancer	29.8	14	19667160 (2), 19570947 (2), 15225785 (1), 15863722 (1) (see all 8)
cancer	28.4	22	19570947 (3), 16680461 (2), 16180015 (1), 17507873 (1) (see all 13)
colon carcinoma	24.2	3	12027461 (2), 11467853 (1)
colon cancer	18.7	2	11467853 (2)
tumors	16.5	17	16180015 (4), 14585316 (1), 17875655 (1), 12899539 (1) (see all 14)
myeloid leukemia	14	2	10410379 (1), 16457885 (1)

Human Genome Epidemiology (HuGE) Navigator: CYP24A1 (31 documents)

Export disorders for CYP24A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CYP24A1 gene, integrated from 9 sources (see all 245):
(articles sorted by number of sources associating them with CYP24A1)

Utopia: connect your pdf to the dynamic
world of online information

Metabolism of vitamin D3 by cytochromes P450. (PubMed id 15574355)^{2, 7, 9} Sakaki T.... Inouye K. (2005)
Evidence for the activation of 1alpha-hydroxyvitamin D2 by 25-hydroxyvitamin D-24-hydroxylase: delineation of pathways involving 1alpha,24-dihydroxyvitamin D2 and 1alpha,25-dihydroxyvitamin D2. (PubMed id 16516540)^{1, 7, 9} Masuda S....Jones G. (2006)
Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D- deficient rickets. (PubMed id 8266831)^{1, 2, 9} Labuda M.... Glorieux F.H. (1993)
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. (PubMed id 21675912)^{1, 2} Schlingmann K.P.... Konrad M. (2011)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. (PubMed id 7632726)^{1, 2} Chen K.-S. and DeLuca H.F. (1995)
Isolation and expression of human 1,25-dihydroxyvitamin D3 24- hydroxylase cDNA. (PubMed id 8506296)^{1, 2} Chen K.-S.... Deluca H.F. (1993)
CYP24 splicing variants are associated with different patterns of constitutive and calcitriol-inducible CYP24 activity in human prostate cancer cell lines. (PubMed id 17368180)^{1, 9} Muindi J.R....Trump D.L. (2007)
Structure-function analysis of vitamin D 24-hydroxylase (CYP24A1) by site-directed mutagenesis: amino acid residues responsible for species-based difference of CYP24A1 between humans and rats. (PubMed id 16617161)^{1, 9} Hamamoto H....Sakaki T. (2006)
CYP24 promoter activity is affected by mechanical stress and mitogen-activated protein kinase in MG63 osteoblast-like cells. (PubMed id 18467787)^{1, 9} Toyoshita Y....Yokoyama A. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1591	HGNC: 2602	AceView: CYP24A1	Ensembl:ENSG00000019186	euGenes: HUgn1591
ECgene: CYP24A1	H-InvDB: CYP24A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CYP24A1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP24A1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CYP24A1 gene
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Patent Information for CYP24A1 gene:
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GeneCards and IP:
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CYP24A1 Gene

cytochrome P450, family 24, subfamily A, polypeptide 1

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CYP24A1 Gene

cytochrome P450, family 24, subfamily A, polypeptide 1

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