功能： disease:Defects in MESP2 are the cause of spondylocostal dysostosis autosomal recessive type 2 (SCDO2) [MIM:608681]. Autosomal recessive spondylocostal dysostosis is a rare condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.,disease:Defects in MESP2 may be a cause of spondylothoracic dysostosis (STD).,function:Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.,polymorphism:The number of GQ repeats at position 179 is polymorphic.,PTM:Degraded by the proteasome.,PTM:Phosphorylated.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
科研货号： PLA005970
MESP2 Polyclonal Antibody
Catalog NoPLA005970
Product information
基因名称： MESP2 BHLHC6 SCDO2
蛋白名称： Mesoderm posterior protein 2 (Class C basic helix-loop-helix protein 6) (bHLHc6)
功能： disease:Defects in MESP2 are the cause of spondylocostal dysostosis autosomal recessive type 2 (SCDO2) [MIM:608681]. Autosomal recessive spondylocostal dysostosis is a rare condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.,disease:Defects in MESP2 may be a cause of spondylothoracic dysostosis (STD).,function:Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.,polymorphism:The number of GQ repeats at position 179 is polymorphic.,PTM:Degraded by the proteasome.,PTM:Phosphorylated.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,
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