基因名称(Gene Name)
MESP2 BHLHC6 SCDO2
蛋白名称
Mesoderm posterior protein 2 (Class C basic helix-loop-helix protein 6) (bHLHc6)
免疫原
Synthesized peptide derived from human protein . at AA range: 220-300
特异性
MESP2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008],
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 rostroca
