5clw

Structural highlights

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.