Aliases for MSX1 Gene
External Ids for MSX1 Gene
Previous HGNC Symbols for MSX1 Gene
Previous GeneCards Identifiers for MSX1 Gene
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for MSX1 Gene
MSX1 (Msh Homeobox 1) is a Protein Coding gene. Diseases associated with MSX1 include Ectodermal Dysplasia 3, Witkop Type and Orofacial Cleft 5. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neuroscience. GO annotations related to this gene include sequence-specific DNA binding and p53 binding. An important paralog of this gene is MSX2.
UniProtKB/Swiss-Prot for MSX1 Gene
Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.