AGMO Chromosome 7
Alkylglycerol monooxygenase
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What This Gene Does
The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Fatty acid hydroxylase domain containing
Locus Type
gene with protein product
Location
7p21.2
Ensembl
ENSG00000187546
Associated Conditions (3)
AGMO-related disorder
See cases
AGMO-related Neurodevelopmental disorder
Key Variants
RS139309795
Conflicting classifications of pathogenicity
Health Risk
RS143371620
Conflicting classifications of pathogenicity
AGMO-related disorder, AGMO-related disorder
Health Risk
RS756729494
Likely pathogenic
See cases, See cases
Health Risk
RS767457600
Likely pathogenic
AGMO-related Neurodevelopmental disorder, AGMO-related Neurodevelopmental disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139309795 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143371620 | Health Risk | Conflicting classifications of pathogenicity | AGMO-related disorder, AGMO-related disorder |
| RS756729494 | Health Risk | Likely pathogenic | See cases, See cases |
| RS767457600 | Health Risk | Likely pathogenic | AGMO-related Neurodevelopmental disorder, AGMO-related Neurodevelopmental disorder |