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Open Access Articles- Top Results for MESP2

MESP2

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Identifiers
SymbolsMESP2 ; SCDO2; bHLHc6
External IDsOMIM605195 MGI1096325 HomoloGene7420 GeneCards: MESP2 Gene
Orthologs
SpeciesHumanMouse
Entrez14587317293
EnsemblENSG00000188095ENSMUSG00000030543
UniProtQ0VG99O08574
RefSeq (mRNA)NM_001039958NM_008589
RefSeq (protein)NP_001035047NP_032615
Location (UCSC)Chr 15:
90.3 – 90.32 Mb
Chr 7:
79.81 – 79.81 Mb
PubMed search[1][2]

Mesoderm posterior protein 2 (MESP2), also known as class C basic helix-loop-helix protein 6 (bHLHc6), is a protein that in humans is encoded by the MESP2 gene.[1]

Function

This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm.[1]

Clinical significance

Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.[2]

References

  1. ^ a b "Entrez Gene: mesoderm posterior 2 homolog (mouse)". 
  2. ^ Cornier AS, Staehling-Hampton K, Delventhal KM et al. (June 2008). "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome". Am. J. Hum. Genet. 82 (6): 1334–41. PMC 2427230. PMID 18485326. doi:10.1016/j.ajhg.2008.04.014. 

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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