Table 2:
Protein Namea | Abbreviationa | Protein Fucntiona | Skeletal Disordersbc |
---|---|---|---|
Forkhead Box C2 | F0XC2 (MFH1) | Forkhead family transcription factor | n/a |
Gremlin | GREM1 | BMP antagonist | Sclerosteosis, OMIM #269500 |
Noggin | NOG | BMP inhibitor | Multiple synostoses syndrome 1, OMIM #186500 |
NK3 Homeobox 2 | NXK3.2 (BAXP1) | Transcriptional repressor | Spondylo-megaepiphyseal-metaphyseal dysplasia, OMIM #613330 |
Paired Box 1 | PAX1 | PAX family transcription factor | Otofaciocervica syndrome 2, OMIM #615560; Klippel-feil syndrome, OMIM #613702; Diaphanospondyiodysostosis, OMIM #608022 |
Paired Box 9 | PAX9 | PAX family transcription factor | Tooth agenesis, OMIM #604625 |
Sonic Hedgehog | SHH | Secreted ligand | Laurin-Sandrow syndrome, OMIM #135750; Hypoplasia or aplasia of tibia with polydactyly, OMIM #188740; Solitary median maxillary central incisor, OMIM #147250 |