GLB1 Recombinant Rabbit Monoclonal Antibody [JE40-77] (HA721562)

UNIPROT #

P16278

PROTEIN NAME

GLB1

SYNONYMS

Acid beta galactosidase antibody;Acid beta-galactosidase antibody;Beta galactosidase 1 antibody;Beta galactosidase antibody;Beta-galactosidase antibody;BGAL_HUMAN antibody;EBP antibody;EBP, included antibody;Elastin receptor 1 (67kD) antibody;Elastin receptor 1 67kDa antibody;Elastin receptor 1 antibody;Elastin receptor 1, included antibody;Elastin-binding protein, included antibody;ELNR1 antibody;Galactosidase beta 1 antibody;GLB 1 antibody;GLB1 antibody;Lactase antibody;MPS4B antibody;S-GAL, included antibody

SUBCELLULAR LOCATION

Lysosome and Cytoplasm.

FUNCTION

Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. Defects in GLB1 are the cause of mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]; also known as Morquio syndrome B. MPS4B is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.