CYP2U1 - cytochrome P450 family 2 subfamily U member 1 Gene

Homo sapiens

Also known as SPG49; SPG56; P450TEC

Gene ID: 113612 | Gene type: protein coding

About CYP2U1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:107,931,549-107,953,461 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 5.8), ovary (RPKM 5.2) and 24 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 Enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]

CYP2U1 Products(1)

mRNA	Protein	Name
NM_183075.3	NP_898898.1	cytochrome P450 2U1

CYP2U1 Protein Structure

p450

0
100
200
300
400
500
544 a.a.

Protein Preferred Names

Protein Names

cytochrome P450 2U1

cytochrome P450, family 2, subfamily U, polypeptide 1

Related Diseases

Diseases

Alias

Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum

Spastic Paraplegia 56, Autosomal Recessive	SPG56
Paraplegia, Spastic, Type 56, Autosomal Recessive

Hereditary Spastic Paraplegia 56

Autosomal Recessive Spastic Paraplegia Type 56	Spg56
Autosomal Recessive Spastic Paraplegia 56

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

Paraplegia

Paraplegia, Lower

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

Spastic Paraplegia 25, Autosomal Recessive

SPG25	Hereditary Spastic Paraplegia 25
Autosomal Recessive Spastic Paraplegia Type 25	Spastic Paraplegia 25
Disc Herniation With Spastic Paraplegia, Autosomal Recessive	Autosomal Recessive Spastic Paraplegia 25
Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia	Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Spastic Paraplegia 28, Autosomal Recessive

SPG28	Hereditary Spastic Paraplegia 28
Autosomal Recessive Spastic Paraplegia Type 28	Autosomal Recessive Spastic Paraplegia 28
Paraplegia, Spastic, Type 28, Autosomal Recessive

Spastic Paraplegia 54, Autosomal Recessive

SPG54	Hereditary Spastic Paraplegia 54
Autosomal Recessive Spastic Paraplegia Type 54	Autosomal Recessive Spastic Paraplegia 54
Paraplegia, Spastic, Type 54, Autosomal Recessive

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Axonal Neuropathy

Spastic Ataxia 5

Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia 49
Spg49	Paraplegia, Spastic, Type 49, Autosomal Recessive

Charcot-Marie-Tooth Disease, Axonal, Type 2h

CMT2H	Charcot-Marie-Tooth Disease Axonal Type 2h
Ar-Cmt2c	Autosomal Recessive Axonal Cmt4c2
Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement	Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive	Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features	Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features
Charcot-Marie-Tooth Disease, Type 2h

Pseudoxanthoma Elasticum

PXE	Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Modifier Of Severity Of	Gronblad-Strandberg-Touraine Syndrome
Gronblad Strandberg Syndrome	Groenblad-Strandberg Syndrome
Nevus Elasticus	Pxe - [Pseudoxanthoma Elasticum]

Spastic Paraplegia 55, Autosomal Recessive

SPG55	Hereditary Spastic Paraplegia 55
Autosomal Recessive Spastic Paraplegia Type 55	Autosomal Recessive Spastic Paraplegia 55
Paraplegia, Spastic, Autosomal Recessive, Type 55

Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease, Type 2a2a	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
Charcot-Marie-Tooth Neuronal Type 2a2	Charcot-Marie-Tooth Neuropathy Type 2a2
Cmt2a2a	Hereditary Motor And Sensory Neuropathy Iia2
Hmsn Iia2	Hmsn2a2

Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome	SPG79
Neurodegeneration With Optic Atrophy, Childhood-Onset	Ndgoa
Hereditary Spastic Paraplegia 79	Spastic Paraplegia 79 Autosomal Recessive
Doid:0112344	Neurodegeneration, With Optic Atrophy, Childhood-Onset

Spastic Paraplegia 26, Autosomal Recessive

SPG26	Hereditary Spastic Paraplegia 26
Autosomal Recessive Spastic Paraplegia Type 26	Gm2 Synthase Deficiency
Spastic Paraplegia 26	Autosomal Recessive Spastic Paraplegia 26
Paraplegia, Spastic, Autosomal Recessive, Type 26

Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T	Charcot-Marie-Tooth Disease Axonal Type 2t
Charcot-Marie-Tooth Neuropathy, Type 2t	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
Ar-Cmt2t	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy Type 2t
Charcot-Marie-Tooth Disease Type 2t	Mme-Related Autosomal Dominant Cmt2
Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2	Charcot-Marie-Tooth Disease 2t
Charcot-Marie-Tooth Neuropathy Axonal Type 2t

Alcohol Dependence

Alcoholism	Alcohol Dependence, Susceptibility To
Alcohol Dependence, Protection Against	Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against
Alcoholism, Susceptibility To	Alcoholic Intoxication, Chronic
Pharyngeal Neoplasms	Chronic Alcoholism
Dipsomania	Alcohol Addiction
Ethanol Dependence	Chronic Ethanolism
Chronic Alcoholic Disease Nos	Alcoholic Disease Nos
Alcoholic

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

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS03468	CYP2U1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CYP2U1	MGD	MGI:1918769
Bos taurus	CYP2U1	VGNC	VGNC:110262
Rattus norvegicus	CYP2U1	RGD	RGD:1309433
Felis catus	CYP2U1	VGNC	VGNC:103320
Canis familiaris	CYP2U1	VGNC	VGNC:50357

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