CYP2U1 — Cytochrome P450 Family 2 Subfamily U Member 1

CYP2U1 — Cytochrome P450 Family 2 Subfamily U Member 1

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">CYP2U1 — Cytochrome P450 Family 2 Subfamily U Member 1</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>CYP2U1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Cytochrome P450 Family 2 Subfamily U Member 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>4q25</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>11302</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>608878</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000155016</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9Y5K1</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>Hereditary Spastic Paraplegia, Asthma, Eicosanoid metabolism</td>
</tr>
</table>

Cyp2U1 — Cytochrome P450 Family 2 Subfamily U Member 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

This page provides comprehensive information about CYP2U1 Gene, including its structure, normal function in the nervous system, and its role in neurodegenerative diseases.

Function

CYP2U1 encodes a cytochrome P450 enzyme belonging to the CYP2U subfamily. Unlike many P450 enzymes that metabolize drugs, CYP2U1 is specialized for:

CYP2U1 — Cytochrome P450 Family 2 Subfamily U Member 1

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">CYP2U1 — Cytochrome P450 Family 2 Subfamily U Member 1</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>CYP2U1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Cytochrome P450 Family 2 Subfamily U Member 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>4q25</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>11302</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>608878</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000155016</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9Y5K1</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>Hereditary Spastic Paraplegia, Asthma, Eicosanoid metabolism</td>
</tr>
</table>

Cyp2U1 — Cytochrome P450 Family 2 Subfamily U Member 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

This page provides comprehensive information about CYP2U1 Gene, including its structure, normal function in the nervous system, and its role in neurodegenerative diseases.

Function

CYP2U1 encodes a cytochrome P450 enzyme belonging to the CYP2U subfamily. Unlike many P450 enzymes that metabolize drugs, CYP2U1 is specialized for:

• Arachidonic acid metabolism - hydroxylates arachidonic acid to produce 20-HETE (20-hydroxyeicosatetraenoic acid)
• Polyunsaturated fatty acid oxidation - metabolizes EPA and DHA
• Eicosanoid synthesis - produces bioactive lipid mediators

20-HETE Production

The primary enzymatic product of CYP2U1 is 20-HETE, which has diverse biological functions:

• Vasoconstriction - regulates blood pressure and renal function
• Ion transport - modulates sodium reabsorption in kidneys
• Inflammatory responses - acts as pro-inflammatory mediator
• Cell proliferation - affects cell growth and survival

Disease Associations

Hereditary Spastic Paraplegia (SPG56)

CYP2U1 mutations cause autosomal recessive hereditary spastic paraplegia type 56 (SPG56). Clinical features include:

• Early-onset progressive spastic paraplegia
• Peripheral neuropathy
• Thin corpus callosum
• Cognitive impairment in some cases

• Decreased 20-HETE production
• Impaired lipid signaling in neurons
• Axonal degeneration

Neuroinflammation

CYP2U1-derived 20-HETE plays complex roles in neuroinflammation:

• Promotes inflammatory responses in [microglia](/cell-types/microglia)
• Regulates [blood-brain barrier](/entities/blood-brain-barrier) permeability
• Modulates oxidative stress

Cancer

CYP2U1 is overexpressed in certain cancers and may contribute to:

• Tumor angiogenesis
• Cell survival
• Chemoresistance

Expression

CYP2U1 is expressed in:

• Brain (cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum)
• Kidney
• Liver
• Lung
• Endothelial cells

• [Neurons](/entities/neurons)
• [Astrocytes](/entities/astrocytes)
• [Microglia](/entities/microglia)
• Endothelial cells of cerebral vasculature

Key Publications

See Also

• [Hereditary Spastic Paraplegia](/diseases/hereditary-spastic-paraplegia)
• [Cytochrome P450](/cyp2u1-—-cytochrome-p450-family-2-subfamily-u-member-1)
• [Arachidonic Acid Metabolism](/mechanisms/arachidonic-acid-metabolism)
• [Neuroinflammation](/mechanisms/neuroinflammation-pathway)
• [Lipid Signaling](/mechanisms/sphingolipid-signaling-neurodegeneration)

External Links

• [NCBI Gene: CYP2U1](https://www.ncbi.nlm.nih.gov/gene/11302)
• [UniProt: CYP2U1](https://www.uniprot.org/uniprot/Q9Y5K1)
• [OMIM: CYP2U1](https://www.omim.org/entry/608878)
• [Allen Brain Atlas: CYP2U1](https://human.brain-map.org/microarray/search/show?search_term=CYP2U1)

Background

The study of Cyp2U1 — Cytochrome P450 Family 2 Subfamily U Member 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References