CYP27A1 - cytochrome P450 family 27 subfamily A member 1 Gene

Homo sapiens

Also known as CTX; CP27; CYP27

Gene ID: 1593 | Gene type: protein coding

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

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

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

Bioactive Molecules (6)

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	≥99.0%	Unkown
HY-RS03450	CYP27A1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS03451	CYP27B1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS03452	CYP27C1 Human Pre-designed siRNA Set A		/	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

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