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. Author manuscript; available in PMC: 2020 Jan 3.
Published in final edited form as: Curr Top Dev Biol. 2019 Jan 3;133:49–90. doi: 10.1016/bs.ctdb.2018.11.018

Table 2:

Proteins Involved in Important Signaling Pathways during Sclerotome Specification

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