ECM1 Chromosome 1
Extracellular matrix protein 1
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What This Gene Does
This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Associated Conditions (8)
Thyroid cancer
nonmedullary
1
Melanoma
Acute myeloid leukemia
Inborn genetic diseases
ECM1-related disorder
Lipid proteinosis
Key Variants
RS376927252
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS121909116
Likely pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS1670380730
Likely pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS2526403709
Likely pathogenic
ECM1-related disorder, ECM1-related disorder
Health Risk
RS2526412851
Likely pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS778473713
Likely pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS121909114
Pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS121909115
Pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS1560265435
Pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS1560266014
Pathogenic
Health Risk
RS1560267428
Pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
RS2101440055
Pathogenic
Lipid proteinosis, Lipid proteinosis
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376927252 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS121909116 | Health Risk | Likely pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS1670380730 | Health Risk | Likely pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS2526403709 | Health Risk | Likely pathogenic | ECM1-related disorder, ECM1-related disorder |
| RS2526412851 | Health Risk | Likely pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS778473713 | Health Risk | Likely pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS121909114 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS121909115 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS1560265435 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS1560266014 | Health Risk | Pathogenic | — |
| RS1560267428 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS2101440055 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS2101440353 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS766844065 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS867426247 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS869025564 | Health Risk | Pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS869025565 | Health Risk | Pathogenic | Lipid proteinosis, ECM1-related disorder, Lipid proteinosis |
| RS756977475 | Health Risk | Pathogenic/Likely pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS762669789 | Health Risk | Pathogenic/Likely pathogenic | Lipid proteinosis, Lipid proteinosis |
| RS768474010 | Health Risk | Pathogenic/Likely pathogenic | Lipid proteinosis, ECM1-related disorder, Lipid proteinosis |