ODC1 Chromosome 2
Ornithine decarboxylase 1
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What This Gene Does
This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000115758
Associated Conditions (2)
Neurodevelopmental disorder with alopecia and brain abnormalities
Inborn genetic diseases
Key Variants
RS1425530118
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with alopecia and brain abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with alopecia and brain abnormalities
Health Risk
RS1671795191
Likely pathogenic
Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
Health Risk
RS1671794742
Pathogenic
Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
Health Risk
RS1671798353
Pathogenic
Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
Health Risk
RS1671814748
Pathogenic
Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
Health Risk
RS1671814787
Pathogenic
Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
Health Risk
RS2148066296
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1425530118 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with alopecia and brain abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with alopecia and brain abnormalities |
| RS1671795191 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities |
| RS1671794742 | Health Risk | Pathogenic | Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities |
| RS1671798353 | Health Risk | Pathogenic | Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities |
| RS1671814748 | Health Risk | Pathogenic | Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities |
| RS1671814787 | Health Risk | Pathogenic | Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities |
| RS2148066296 | Health Risk | Pathogenic | — |