Recently, lipoid proteinosis has been mapped to chromosome 1q21, and the locus for the extracellular matrix protein 1 (ECM1) gene and six different mutations in the ECM1 gene have been identified in patients affected by LP (2).
What does ECM1 stand for?
ECM1 stands for Extracellular Matrix Protein 1
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1, 2) The condition is caused by the recently discovered Q276X mutation in the extracellular matrix protein 1 gene (ECM1) and maps to chromosome 1q21.