Galactosidase Beta (GLb)

GL-B; b-GAL; bGAL; ELNR1; EBP; GLB1; Lactase; Elastin Receptor 1,67kDa; Elastin Receptor 1(67kD); Acid Beta-Galactosidase

SPN	W543
HGNC	4298
MGI	88151
PubMed	11017877
RGD	1597145
UniProt	P16278
Wiki	GLB

Galactosidase Beta (GLb) is a hydrolase enzyme that catalyzes the hydrolysis of β-galactosides into monosaccharides. Substrates of different β-galactosidases include ganglioside GM1, lactosylceramides, lactose, and various glycoproteins. Alternate or nicknames are "beta-gal" or "β-gal". Lactase is often confused as an alternative name for β-galactosidase, but it is actually simply a sub-class of β-galactosidase.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. β-galactosidase

Reference

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Erratum
Hum. Mutat. 24:536-537(2004)

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"Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America."
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