CYP27A1 - cytochrome P450 family 27 subfamily A member 1 Gene

Also Known as CTX; CP27; CYP27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1593

About CYP27A1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:218,782,147-218,815,293 (from NCBI)

This gene has 5 transcripts (splice variants), 227 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 101.4), small intestine (RPKM 27.6) and 16 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 oxidizes Cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of Cholesterol to bile acids is the major route for removing Cholesterol from the body, this protein is important for overall Cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

CYP27A1 Products (1)

mRNA	Protein	Name
NM_000784.4	NP_000775.1	sterol 26-hydroxylase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables cholestanetetraol 26-dehydrogenase activity	IDA IDA: Inferred from direct assay	11412116	GOA
enables cholesterol 26-hydroxylase activity	IDA IDA: Inferred from direct assay	9660774	GOA
enables heme binding	IDA IDA: Inferred from direct assay	9660774	GOA
enables vitamin D3 25-hydroxylase activity	IDA IDA: Inferred from direct assay	15465040	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bile acid biosynthetic process	IDA IDA: Inferred from direct assay	9660774	GOA
involved in calcitriol biosynthetic process from calciol	IDA IDA: Inferred from direct assay	15465040	GOA
involved in cholesterol catabolic process	IDA IDA: Inferred from direct assay	9660774	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP27A1 Protein Structure

p450

0
100
200
300
400
500
531 a.a.

Protein Preferred Names	Protein Names
sterol 26-hydroxylase, mitochondrial	5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase

CYP27A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82418	Cytochrome P450 27A1 Antibody (YA2163)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cerebrotendinous Xanthomatosis	CTX Cerebral Cholesterinosis Cholestanol Storage Disease Xanthomatosis, Cerebrotendinous Sterol 27-Hydroxylase Deficiency Xanthomatosis Cerebrotendinous Cerebrotendinous Cholesterinosis Cholestanolosis Van Bogaert-Scherer-Epstein Disease
Xanthomatosis	Xanthomatosis, Susceptibility To Xanthelasmatosis
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
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
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Nasal Cavity Lymphoma	Lymphoma Of Nasal Cavity Lymphoma Of The Nasal Cavity
Cholelithiasis
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect 3 CBAS3 Oxysterol 7-Alpha-Hydroxylase Deficiency Congenital Bile Acid Synthesis Defect Type 3 Basd3 Bile Acid Synthesis Defect, Congenital, Type 3
Hard Palate Cancer	Malignant Neoplasm Of Hard Palate Malignant Tumor Of Hard Palate Malignant Tumour Of Hard Palate
Breast Leiomyosarcoma	Leiomyosarcoma Of The Breast
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis
Nodular Tenosynovitis	Synovioma, Benign Benign Synovioma Benign Tumor Of Synovium Localized Giant Cell Tumor Of Tenosynovium Giant Cell Tumor Of Tendon Sheath
Parotid Gland Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of Parotid Gland
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (13)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-130705A	Tachysterol 3		99.68%	Unkown
HY-16670	Dafadine-A	Inhibitor	98.94%	Unkown
HY-138115	7ß,27-Dihydroxycholesterol	Activator	99.58%	Unkown
HY-154825	20-Hydroxyvitamin D3		≥98.0%	Unkown
HY-139067	25(S)-27-Hydroxy cholesterol	Activator	/	Unkown
HY-176497	GW273297X	Inhibitor	/	Unkown
HY-RS03450	CYP27A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03451	CYP27B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03452	CYP27C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16287	Cyp27b1 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS17011	Cyp27a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23454	Cyp27a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25766	Cyp27b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CYP27A1	VGNC	VGNC:50342
Mus musculus	CYP27A1	MGD	MGI:88594
Rattus norvegicus	CYP27A1	RGD	RGD:727915
Bos taurus	CYP27A1	VGNC	VGNC:110244
Macaca mulatta	CYP27A1	VGNC	VGNC:103624
Felis catus	CYP27A1	VGNC	VGNC:103339
Others	CYP27A1	NCBI