基因名:
MESD
产品别名:
BOCA; MESDC2; OI20; MESD; mesoderm development LRP chaperone; mesoderm development LRP chaperone; LRP chaperone MESD; LDLR chaperone MESD; mesoderm development LRP chaperone MESD; mesoderm development candidate 2; mesoderm development protein; renal carcinoma antigen NY-REN-61; 中胚层分化蛋白2;
背景信息:
MESDC2 is a 234 amino acid endoplasmic reticulum protein belonging to the MESD family. Considered a chaperone protein, MESDC2 specifically assists in folding beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) through N- and C-terminal unstructured regions. MESDC2 modulates the Wnt pathway by chaperoning coreceptors LRP5 and LRP6 to the plasma membrane, and is essential for mesoderm induction and embryonic polarity. The gene encoding MESDC2 maps to human chromosome 15, which houses over 700 genes and comprises nearly 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.