CYP24A1 - cytochrome P450 family 24 subfamily A member 1 Gene

Also Known as CP24; HCAI; CYP24; HCINF1; P450-CC24

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1591

About CYP24A1

Cytogenetic location: 20q13.2 Genomic coordinates (GRCh38): 20:54,143,538-54,173,986 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in urinary bladder (RPKM 21.5), endometrium (RPKM 10.7) and 2 other tissues.

Summary

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]

CYP24A1 Products (2)

mRNA	Protein	Name
NM_000782.5	NP_000773.2	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor
NM_001128915.2	NP_001122387.1	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

CYP24A1 Protein Structure

p450

0
100
200
300
400
514 a.a.

Protein Preferred Names	Protein Names
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	1,25-@dihydroxyvitamin D3 24-hydroxylase

CYP24A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82376	Cytochrome P450 24A1 Antibody (YA2121)	WB	Human

Related Diseases

Diseases	Alias
Hypercalcemia, Infantile, 1	HCINF1 Infantile Hypercalcemia Hypercalcemia Hypercalcemia, Idiopathic, Of Infancy Hypercalcemia Infantile Idiopathic Hypercalcemia Of Infancy Hypercalcemia, Infantile Hypercalcemia, Infantile, Type 1
Idiopathic Infantile Hypercalcemia	Autosomal Recessive Infantile Hypercalcemia Iih Vitamin D Hypersensitivity Familial Infantile Hypercalcemia With Suppressed Intact Parathyroid Hormone
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Osteomalacia	Adult Rickets
Nephrocalcinosis	Hypercalcemic Nephropathy
Vitamin D-Dependent Rickets, Type 3	VDDR3 Vitamin D-Dependent Rickets 3
Premature Ejaculation
Hypervitaminosis D	Vitamin D Hyperalimentation
Vitamin D Hydroxylation-Deficient Rickets, Type 1b	VDDR1B Vitamin D-Dependent Rickets Type 1b Vitamin D-Dependent Rickets, Type 1b 25-Hydroxyvitamin D3 Deficiency, Selective Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency Rickets Vitamin D-Dependent 1b 25-Hydroxyvitamimn D3 Deficiency Selective 25-Hydroxyvitamin D(3) Deficiency Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency Selective 25-Hydroxyvitamin D(3) Deficiency Rickets Due To Defect In Vitamin D 25-Hydroxylation
Secondary Hyperparathyroidism	Hyperparathyroidism Secondary Hyperparathyroidism, Secondary Secondary Hyperparathyroidism Nec
Vitamin D-Dependent Rickets	Vddr
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Hypocalcemia, Autosomal Dominant 1	Autosomal Dominant Hypocalcemia Autosomal Dominant Hypocalcemia 1 HYPOC1 Hypocalcemia, Autosomal Dominant Hypercalciuric Hypocalcemia Hypocalcemia, Autosomal Dominant, With Bartter Syndrome Familial Hypocalcemia Hypocalcemia, Familial Hypoc Adh Autosomal Dominant Hypoparathyroidism Familial Hypercalciuric Hypocalcemia Ad Hypocalcemia Autosomal Dominant Hypocalcemia With Bartter Syndrome Hypoparathyroidism - Autosomal Dominant Hypocalcemia
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Parathyroid Gland Disease	Parathyroid Diseases Disease Of Parathyroid Glands Parathyroid Disease
Hypophosphatemic Rickets, Autosomal Dominant	Autosomal Dominant Hypophosphatemic Rickets ADHR Autosomal Dominant Hypophosphatemia Vitamin D-Resistant Rickets, Autosomal Dominant Hypophosphatemia, Autosomal Dominant Autosomal Dominant Vitamin D-Resistant Rickets Rickets, Hypophosphatemic, Autosomal Dominant
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Autosomal Recessive Hypophosphatemic Rickets	Arhr Hypophosphatemic Rickets, Autosomal Recessive Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Hypophosphatemic Rickets, X-Linked Dominant	X-Linked Hypophosphatemia Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemic Rickets XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial
Vitamin D-Dependent Rickets, Type 2a	Hvdrr Generalized Resistance To 1,25-Dihydroxyvitamin D Hypocalcemic Vitamin D-Resistant Rickets VDDR2A Rickets, Hereditary Vitamin D-Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Pddr Iia Rickets-Alopecia Syndrome Rickets, Vitamin D-Resistant, Type Iia Vitamin D-Dependent Rickets Type 2a Vitamin D-Dependent Rickets, Type 2 Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia Generalized 1,25-Dihydroxyvitamin D Pseudovitamin D-Deficiency, Type Iia Hereditary Vitamin D-Resistant Rickets Vddr Ii Vdrr Ii Vitamin D-Dependent Rickets Type Ii Vitamin D-Resistant Rickets Type Ii Rickets Vitamin D-Dependent 2a Pseudovitamin D-Deficiency Type Iia Rickets Hereditary Vitamin D-Resistant Type Iia Rickets Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia Vitamin D-Dependent Rickets, Type Ii Familial Hypophosphatemic Rickets Hypophosphatemic Rickets, X-Linked Dominant
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Asthma	Chronic Obstructive Asthma Asthma, Diminished Response To Antileukotriene Treatment In Bronchial Hyperreactivity Asthma, Susceptibility To Asthma, Bronchial Asthma, Protection Against Asthma, Nocturnal, Susceptibility To Nocturnal Asthma Asthma-Related Traits Asthma-Related Traits, Susceptibility To Asthma, Nocturnal Chronic Obstructive Asthma With Acute Exacerbation Chronic Obstructive Asthma With Status Asthmaticus Exercise Induced Asthma Exercise-Induced Asthma Bronchial Asthma Asthma, Exercise-Induced Idiosyncratic Asthma Unspecified Asthma With Acute Exacerbation Asthma, Unspecified, With Stated Status Asthmaticus Status Asthmaticus Nos Acute Severe Asthma Acute Severe Bronchial Asthma Status Asthma Status Post Asthmaticus
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0105	Ketoconazole	Inhibitor	99.57%	Yes

Pre-clinical Phase

Bioactive Molecules (13)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-77278	25-Hydroxytachysterol3	Agonist	98.07%	Unkown
HY-N10508	Calcitroic acid	Ligand	85.0%	Unkown
HY-173191	SK-124	Inhibitor	95.0%	Unkown
HY-B0105S	Ketoconazole-d8	Inhibitor	99.79%	Unkown
HY-B0105S1	Ketoconazole-d4	Inhibitor	99.63%	Unkown
HY-154825	20-Hydroxyvitamin D3		≥98.0%	Unkown
HY-178336	AC-340		/	Unkown
HY-181486	VDR agonist 5	Agonist	/	Unkown
HY-N10508S	Calcitroic acid-13C	Ligand	/	Unkown
HY-RS03446	CYP24A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-166670S	Ketoconazole carbonyl-13C	Inhibitor	/	Unkown
HY-RS19541	Cyp24a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26037	Cyp24a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CYP24A1	VGNC	VGNC:50338
Bos taurus	CYP24A1	VGNC	VGNC:110238
Mus musculus	CYP24A1	MGD	MGI:88593
Rattus norvegicus	CYP24A1	RGD	RGD:2462
Felis catus	CYP24A1	VGNC	VGNC:80078
Macaca mulatta	CYP24A1	VGNC	VGNC:103632
Others	CYP24A1	NCBI