Gene Symbol | MSX1 |
Entrez Gene ID | 4487 |
Full Name | msh homeobox 1 |
Synonyms | ECTD3,HOX7,HYD1,STHAG1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3); Orofacial cleft 5, 608874 (3); Ectodermal dysplasia 3, Witkop type, 189500 (3) |