Peptide Sequence: NRRAKAKRLQ EAELEKLKMA AKPMLPPAAF GLSFPLGGPA AVAAAAGASL YGASGPFQRA ALPVAPVGLY TAHVGYSMYH LT
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.
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Protein Aliases: homeobox 7; Homeobox protein Hox-7; Homeobox protein MSX-1; HOX7; HYD1; msh homeo box 1; Msh homeobox 1-like protein; msh homeobox homolog 1; STHAG1
Gene Aliases: ECTD3; HOX7; HYD1; MSX1; STHAG1
UniProt ID: (Human) P28360
Entrez Gene ID: (Human) 4487