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Gene Symbol COL3A1
Synonyms EDS4A | EDSVASC | PMGEDSV
Gene Description COL3A1, collagen type III alpha 1 chain, encodes an extracellular matrix protein that consists of three alpha 1 chains of collagen type III (PMID: 31075413), which plays a role in platelet aggregation (PMID: 10753889), cardiac development (PMID: 9050868), and collagen fibril formation in articular cartilage (PMID: 20404341). Increased COL3A1 expression has been observed in breast cancer (PMID: 10211114), and a fusion with PLAG1 has been identified in lipoblastoma (PMID: 24700772, PMID: 33097826).
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