Gene: MSX1

Alternate names for this Gene: ECTD3|HOX7|HYD1|STHAG1

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.2

Description of this Gene: msh homeobox 1

Type of Gene: protein-coding

rs515726227 in MSX1 gene and Hypodontia PMID 24914010 2014 In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia.

PMID 8696335 1996 A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

rs150284621 in MSX1 gene and OROFACIAL CLEFT 5 PMID 12807959 2003 Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.

rs121913129 in MSX1 gene and Tooth Agenesis, Familial PMID 8696335 1996 A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

PMID 12097313 2002 The role of MSX1 in human tooth agenesis.