The 2017 classification groups EDS genes by the process they affect

To serve research, the 2017 classification groups the EDS types with known genes by the process each gene affects: collagen primary structure and processing (COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, ADAMTS2), collagen folding and cross-linking (PLOD1, FKBP14), the myomatrix, where muscle meets the extracellular matrix (TNXB, COL12A1), glycosaminoglycan biosynthesis (B4GALT7, B3GALT6, CHST14, DSE), the complement pathway (C1R, C1S), and intracellular processes (SLC39A13, ZNF469, PRDM5). hEDS is listed as unresolved.

By Hraness · Drafted with AI assistance.