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GLB1
Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the ''GLB1'' gene. The GLB1 protein is a beta-galactosidase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates. The ''GLB1'' gene also encodes an elastin binding protein. In corn (''Zea mays''), ''Glb1'' is a gene coding for the storage protein globulin. ==Clinical significance== GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「GLB1」の詳細全文を読む
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