C217470Level 5
ECM1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human ECM1 wild-type allele is located in the vicinity of 1q21.2 and is approximately 6 kb in length. This allele, which encodes extracellular matrix protein 1, is involved in endochondral bone formation and the proliferation of endothelial cells. Mutations in the gene are associated with lipoid proteinosis (Urbach-Wiethe disease).
**Synonyms:** - Extracellular Matrix Protein 1 wt Allele - Testicular Tissue Protein Li 61 Gene - URBWD
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