MSX1 is a member of the muscle segment homeobox gene family. It functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. MSX1 may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in the gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia.
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Protein Aliases: homeo box, msh-like 1; homeobox 7; Homeobox protein Hox-7; Homeobox protein MSX-1; homeobox, msh-like 1; Hox-7.1; msh homeo box 1; Msh homeobox 1-like protein; msh homeobox homolog 1; muscle-segment homeobox
Gene Aliases: AA675338; AI324650; ECTD3; Hox-7; HOX7; Hox7.1; HYD1; msh; MSX1; STHAG1
Molecular Function: homeodomain transcription factor