5clw | pdb_00005clw

Crystal structure of human glycogen branching enzyme (GBE1) in complex with maltoheptaose

spinqualitylabelsall models 5clw, resolution 2.80Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 5clw is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Method: X-ray diffraction, Resolution 2.8Å Ligands: GLC, NA Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease GLGB_HUMAN Adult polyglucosan body disease;Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form;Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form. The disease is caused by mutations affecting the gene represented in this entry. Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. The disease is caused by mutations affecting the gene represented in this entry. Function GLGB_HUMAN Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.

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