ECM1
ECM1 is a gene that encodes the protein Extracellular Matrix Protein 1 (ECM1), which is involved in various biological processes including cell adhesion, tissue remodeling, and angiogenesis. The ECM1 protein plays a crucial role in the structural integrity of the extracellular matrix, which is a complex network of proteins and polysaccharides that provides support to cells and tissues.
ECM1 has been implicated in a variety of human diseases, including certain forms of cancer, skin diseases such as lipoid proteinosis, and potentially in angiogenesis-related conditions. Its expression is found in numerous tissues, including skin, lung, and liver, indicating its importance in different physiological contexts.
The gene encoding ECM1 is located on human chromosome 1, and mutations in this gene can lead to the development of diseases. For instance, mutations in ECM1 are known to cause lipoid proteinosis, a rare genetic disorder characterized by the deposition of lipids and proteins in various tissues, leading to skin and mucosal membrane abnormalities.
Research into ECM1 has also highlighted its potential role in tumor development and progression. Its involvement in cell adhesion and migration suggests that ECM1 could influence metastasis, the process by which cancer spreads to new areas of the body. Consequently, ECM1 is being studied as a potential target for cancer therapy.
In addition to its role in disease, ECM1 is also involved in normal physiological processes such as wound healing and tissue repair, further underscoring its significance in human health and disease.
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Contributors: Prab R. Tumpati, MD