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Validated All-in-One™ qPCR Primer for MSX1(NM_002448.3) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
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].
Gene References into function
- mutations in MSX1 are responsible for a specific pattern of inherited tooth agenesis.
- might be involved in the genetic control of cuspid malpositions connected with the specific expression of third molar hypodontia
- mutations make a contribution to clefts in South American populations
- positively associated with cleft lip and/or palate with hypodontia outside the cleft region
- MSX1 mutations which may contribute to non-syndromic forms of cleft lip and/or cleft palate are found in 2% of cases of clefting.
- genetic role in odontogenesis and tooth development abnormalities
- Individuals with Huntington disease with MSX1 genotype 3/3 tended to have younger age of onset
- We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family
- the contribution of MSX1 in the etiology of non-syndromic cleft lip/palate in the Chilean population
- The homeodomain of Msx1 functions as a protein-protein interacting motif rather than a DNA-binding domain and is essential for stabilization, nuclear accumulation, and apoptotic function of wild-type p53.
- PIAS1 is required for the appropriate localization and retention of Msx1 at the nuclear periphery in myoblast cells.
- MSX1 mutations are found in 2% of cases of nonsyndromic cleft lip with or without cleft palate (CL/P) and should be considered for genetic counseling implications, but suggest that the P147Q variant is not pathogenic.
- MSX1 with a novel missense mutation is associated with autosomal recessive oligodontia with associated dental anomalies in Pakistani families
- results are consistent with evidence from other studies in the US and Chile and confirm the importance of the MSX1 genotype in determining the risk of cleft lip with or without palate and cleft palate in Koreans
- muscle segment homeobox 1 (MSX1) microsatellite marker distribution and the relationship between MSX1 gene and the genetic susceptibility of nonsyndromic cleft lip and palate (NSCLP) in Hunan Hans
- gene mutation contributes to tooth agenesis in Iranian individuals
- Specifically required for osteogenesis in the cranial neural crest lineage within the frontal bone primordium of Msx1 transgenic mice.
- positive association between CA polymorphism and cleft lip and/or palate in a Colombian group population
- Significant interactions were observed between allele 4 homozygosity of the child with maternal smoking (OR 2.7, 95% CI 1.1-6.6) and with smoking by both parents (OR 4.9, 95% CI 1.4-18.0) in nonsyndromic orofacial clefts.