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CYP2U1

Chr 4q25

cytochrome P450 family 2 subfamily U member 1

Aliases:
SPG49
MANE:
ENST00000332884.11
OMIM: 610670 ↗NCBI: 113612 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary ataxia

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • Intracerebral calcification disorders

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Autosomal recessive spastic paraplegia type 56

    0.82

  • hereditary spastic paraplegia 56

    0.81

  • hereditary spastic paraplegia

    0.66

  • Spastic paraplegia

    0.64

  • hereditary disease

    0.41

  • retinal disorder

    0.37

  • Intellectual disability

    0.33

  • Lower limb spasticity

    0.33

  • Seizure

    0.33

  • Abnormality of the nervous system

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome P450 2U1

A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:14660610, PubMed:24563460). Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes (PubMed:14660610, PubMed:24563460). May down-regulate the biological activities of N-arachidonoyl-serotonin, an endocannabinoid that has anti-nociceptive effects through inhibition of fatty acid amide hydrolase FAAH, TRPV1 receptor and T-type calcium channels. Catalyzes C-2 oxidation of the indole ring of N-arachidonoyl-serotonin forming a less active product 2-oxo-N-arachidonoyl-serotonin (PubMed:24563460)

Diseases associated with CYP2U1

Curated MONDO disease pages that list CYP2U1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.