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What (who) is GLB1 - definition
GLB1
Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene.
GM1 gangliosidoses
LYSOSOMAL STORAGE DISEASE
GM1 Storage Disease; GM1 gangliosidosis; Dysostosis multiplex; Gangliosidosis type1; Gangliosidosis GM1 type 3; Gm1 gangliosidosis; User:Clinical Geneticist/sandbox
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration.
