CYP7B1 - cytochrome P450 family 7 subfamily B member 1 Gene

Homo sapiens

Also known as CP7B; CBAS3; SPG5A

Gene ID: 9420 | Gene type: protein coding

About CYP7B1

Cytogenetic location: 8q12.3 Genomic coordinates (GRCh38): 8:64,586,575-64,798,737 (from NCBI)

This gene has 2 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 2.3), liver (RPKM 1.9) and 23 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 endoplasmic reticulum membrane protein catalyzes the first reaction in the Cholesterol catabolic pathway of extrahepatic tissues, which converts Cholesterol to bile acids. This Enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

CYP7B1 Products(2)

mRNA	Protein	Name
NM_001324112.2	NP_001311041.1	cytochrome P450 7B1 isoform 2
NM_004820.5	NP_004811.1	cytochrome P450 7B1 isoform 1

CYP7B1 Protein Structure

p450

0
100
200
300
400
506 a.a.

Protein Preferred Names

Protein Names

cytochrome P450 7B1

24-hydroxycholesterol 7-alpha-hydroxylase

Related Diseases

Diseases

Alias

Spastic Paraplegia 5a, Autosomal Recessive

SPG5A	Hereditary Spastic Paraplegia 5a
Autosomal Recessive Spastic Paraplegia 5a	Autosomal Recessive Spastic Paraplegia Type 5a
Spastic Paraplegia 5a	Spastic Paraplegia Type 5a
Spastic Paraplegia Type 5a, Recessive	Autosomal Recessive Spastic Paraplegia
Spastic Paraplegia-5a	Paraplegia, Spastic, Autosomal Recessive, Type 5a

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

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Spastic Ataxia

Spax	Ataxia, Spastic

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Cba
Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency	Basd
Bile Acid Synthesis Defect, Congenital, 1

Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27	Autosomal Recessive Spinocerebellar Ataxia 27
Spinocerebellar Ataxia, Autosomal Recessive, 27

Spastic Paraplegia 9b, Autosomal Recessive

SPG9B	Autosomal Recessive Complex Spastic Paraplegia Type 9b
Hereditary Spastic Paraplegia 9b	Autosomal Recessive Spastic Paraplegia 9b
Autosomal Recessive Spastic Paraplegia Type 9b	Ar-Spg9b

Spastic Paraplegia 3, Autosomal Dominant

SPG3A	Strumpell Disease
Hereditary Spastic Paraplegia 3a	SPG3
Fsp1	Autosomal Dominant Spastic Paraplegia Type 3
Familial Spastic Paraplegia, Autosomal Dominant, 1	Spastic Paraplegia 3a, Autosomal Dominant
Autosomal Dominant Familial Spastic Paraplegia 1	Autosomal Dominant Spastic Paraplegia 3
Spastic Paraplegia 3	Familial Spastic Paraplegia Autosomal Dominant 1
Strumpell-Lorrain Syndrome	Paraplegia, Spastic, Autosomal Dominant, Type 3a
Spastic Paraplegia, Hereditary

Cerebrotendinous Xanthomatosis

CTX	Cerebral Cholesterinosis
Cholestanol Storage Disease	Xanthomatosis, Cerebrotendinous
Sterol 27-Hydroxylase Deficiency	Xanthomatosis Cerebrotendinous
Cerebrotendinous Cholesterinosis	Cholestanolosis
Van Bogaert-Scherer-Epstein Disease

Spastic Paraplegia 82, Autosomal Recessive

SPG82	Hereditary Spastic Paraplegia 82
Spastic Paraplegia 82 Autosomal Recessive	Doid:0112343

Spastic Paraplegia 78, Autosomal Recessive

SPG78	Autosomal Recessive Spastic Paraplegia Type 78
Hereditary Spastic Paraplegia 78	Spastic Paraplegia 78 Autosomal Recessive
Doid:0112348

Spastic Paraplegia 44, Autosomal Recessive

SPG44	Hereditary Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia 44	Autosomal Recessive Spastic Paraplegia Type 44
Paraplegia, Spastic, Type 44, Autosomal Recessive

Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a	SPG9A
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities	Ad-Spg9a
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome	Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
Autosomal Dominant Complex Spastic Paraplegia Type 9a	Autosomal Dominant Spastic Paraplegia 9a
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux	Autosomal Dominant Spastic Paraplegia Type 9a
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
Spastic Paraplegia 9, Autosomal Dominant

Spastic Paraplegia 64, Autosomal Recessive

SPG64	Hereditary Spastic Paraplegia 64
Autosomal Recessive Spastic Paraplegia Type 64	Autosomal Recessive Spastic Paraplegia 64
Paraplegia, Spastic, Type 64, Autosomal Recessive

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35	Spg35
Autosomal Recessive Spastic Paraplegia 35	Fahn
Fatty Acid Hydroxylase-Associated Neurodegeneration	Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Masa Syndrome

L1 Syndrome	Crash Syndrome
X-Linked Hydrocephalus Syndrome	SPG1
Gareis-Mason Syndrome	Spastic Paraplegia 1, X-Linked
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome	L1cam Syndrome
Spastic Paraplegia 1	Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Clasped Thumb And Mental Retardation	Thumb, Congenital Clasped, With Mental Retardation
Adducted Thumb With Mental Retardation	Hereditary Spastic Paraplegia 1
X-Linked Complicated Hereditary Spastic Paraplegia Type 1	X-Linked Corpus Callosum Agenesis
X-Linked Spastic Paraplegia 1	L1 Disease
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	Adducted Thumb With Intellectual Disability
Clasped Thumb And Intellectual Disability	Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
Thumb Congenital Clasped With Intellectual Disability	X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
Adducted Thumbs-Mental Retardation Syndrome	Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
Mental Retardation-Clasped Thumb Syndrome	Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
Spastic Paraplegia Type 1, X-Linked	MASA
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus	Crash
Masa Syndrome

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03488	CYP7B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CYP7B1	VGNC	VGNC:50379
Mus musculus	CYP7B1	MGD	MGI:104978
Rattus norvegicus	CYP7B1	RGD	RGD:2483
Bos taurus	CYP7B1	VGNC	VGNC:110277
Macaca mulatta	CYP7B1	VGNC	VGNC:103615
Felis catus	CYP7B1	VGNC	VGNC:103329

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