Galactosidase Beta 1 Like Protein (GLb1L)
belongs to the glycosyl hydrolase 35 family. Galactosidase, beta 1 is a beta-galactosidase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates. 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.
The RNA transcript of the GLB1 gene is alternatively spliced and produces 2 mRNAs. The 2.5-kilobase transcript encodes the beta-galactosidase enzyme of 677 amino acids. The alternative 2.0-kb mRNA encodes a beta-galactosidase-related protein (S-Gal) that is only 546 amino acids long and that has no enzymatic activity.