IndraLab

Statements


COL9A3 activates SCN8A. 2 / 2
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"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."

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"Mutations in genes coding cartilage oligomeric matrix protein (COMP), type IX collagen alpha 1, 2, and 3 chains (COL9A1, COL9A2, COL9A3), and matrilin 3 (MATN3) cause the dominantly inherited forms of MED, while homozygous or compound heterozygous mutations in diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) gene cause recessively inherited MED (rMED, EDM4 OMIM 226900)."