CYP2U1

Chr 4

cytochrome P450 family 2 subfamily U member 1

Also known as: P450TEC, SPG49, SPG56

NCBI Gene: 113612 ENSG00000155016 UniProt: Q7Z449

This gene encodes a cytochrome P450 enzyme that hydroxylates long chain fatty acids including arachidonic acid and docosahexaenoic acid. Mutations cause spastic paraplegia 56, an autosomal recessive disorder. The pathogenic mechanism involves loss of function of this fatty acid-metabolizing enzyme.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum

Clinical highlights

Gene-disease validity (ClinGen)

hereditary spastic paraplegia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.75

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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