EMILIN1 Chromosome 2
Elastin microfibril interfacer 1
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What This Gene Does
This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"EMI domain containing|C1q domain containing"
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000138080
Associated Conditions (6)
Inborn genetic diseases
Neuronopathy
distal hereditary motor
autosomal dominant 10
Arterial tortuosity
Arterial tortuosity-bone fragility syndrome
Key Variants
RS1370071343
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1194309134
Pathogenic
Neuronopathy, distal hereditary motor, autosomal dominant 10
Health Risk
RS1445463863
Pathogenic
Arterial tortuosity, Arterial tortuosity
Health Risk
RS2465592536
Pathogenic
Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity
Health Risk
RS2465598493
Pathogenic
Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity
Health Risk
RS758895857
Pathogenic
Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity
Health Risk
RS976135721
Pathogenic
Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1370071343 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1194309134 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 10 |
| RS1445463863 | Health Risk | Pathogenic | Arterial tortuosity, Arterial tortuosity |
| RS2465592536 | Health Risk | Pathogenic | Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity |
| RS2465598493 | Health Risk | Pathogenic | Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity |
| RS758895857 | Health Risk | Pathogenic | Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity |
| RS976135721 | Health Risk | Pathogenic | Arterial tortuosity, Arterial tortuosity-bone fragility syndrome, Arterial tortuosity |