CYP2U1 Chromosome 4
Cytochrome P450 family 2 subfamily U member 1
Upload your DNA to see your personal genotypes for variants in CYP2U1.
What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 2
Locus Type
gene with protein product
Location
4q25
Ensembl
ENSG00000155016
Associated Conditions (12)
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 56
Hereditary spastic paraplegia
CYP2U1-related disorder
Abnormality of the nervous system
Intellectual disability
Lower limb spasticity
Seizure
Neurodegeneration
Global developmental delay
See cases
Key Variants
RS138968113
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS142944337
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1437641531
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
Health Risk
RS143913941
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS145638445
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 56, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS147256952
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS147506864
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 56, Hereditary spastic paraplegia
Health Risk
RS199831660
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS2477049390
Conflicting classifications of pathogenicity
CYP2U1-related disorder, CYP2U1-related disorder
Health Risk
RS369116680
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS374109524
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS374633238
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138968113 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS142944337 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS1437641531 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS143913941 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS145638445 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 56, Spastic paraplegia, Inborn genetic diseases |
| RS147256952 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS147506864 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 56, Hereditary spastic paraplegia |
| RS199831660 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS2477049390 | Health Risk | Conflicting classifications of pathogenicity | CYP2U1-related disorder, CYP2U1-related disorder |
| RS369116680 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia |
| RS374109524 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS374633238 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS535692203 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS550088634 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, CYP2U1-related disorder, Spastic paraplegia |
| RS61740284 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS746319505 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia 56 |
| RS747965749 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 56, Hereditary spastic paraplegia |
| RS761095930 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS762873672 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 56, Spastic paraplegia, Hereditary spastic paraplegia 56 |
| RS766196673 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases |
| RS774149338 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS775157727 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 56, Spastic paraplegia, Hereditary spastic paraplegia 56 |
| RS1057519146 | Health Risk | Likely pathogenic | — |
| RS1183645965 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS1248632205 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS1733002976 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS2126199263 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2477043490 | Health Risk | Likely pathogenic | — |
| RS539068584 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS761575210 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS766970458 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1021034246 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1178005151 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 56, Spastic paraplegia |
| RS1288449186 | Health Risk | Pathogenic | — |
| RS1468917268 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS1553937522 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS1560701036 | Health Risk | Pathogenic | — |
| RS1578729121 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1733648064 | Health Risk | Pathogenic | Intellectual disability, Lower limb spasticity, Seizure |
| RS2126187981 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS2126199411 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS2126199530 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2126202736 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS2476952905 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS2477022028 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2477023952 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS2477025279 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2477033725 | Health Risk | Pathogenic | — |
| RS397514514 | Health Risk | Pathogenic | Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS762698300 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |