Rabbit anti-Human GLB1 Polyclonal Antibody

Uniprot Id

P16278

Target Species

Human

Target Name

GLB1

Target Full Name

Beta-galactosidase

Target Function

Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.; 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.

Target Involvement

GM1-gangliosidosis 1 (GM1G1); GM1-gangliosidosis 2 (GM1G2); GM1-gangliosidosis 3 (GM1G3); Mucopolysaccharidosis 4B (MPS4B)

Target Subcellular Location

[Isoform 1]: Lysosome.; [Isoform 2]: Cytoplasm, perinuclear region.

Target Protein Families

Glycosyl hydrolase 35 family

Target Tissue Specificity

Detected in placenta (at protein level). Detected in fibroblasts and testis.

Target Synonyms

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

Target Background

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome.