Elastin
Elastin, as named on this page, refers to the product of the GLB1 gene (galactosidase beta 1), also known as EBP and ELNR1. It is a glycosyl hydrolase 35 family protein that acts as the elastin-binding protein and as a lysosomal beta-galactosidase. Browse Assay Genie's current range of Elastin research reagents below, or read on for the biology behind the target.
The GLB1 gene encodes a protein with two recognised roles. In elastin-producing cells, it associates with tropoelastin inside the cell and works as a recycling molecular chaperone. This facilitates the secretion of tropoelastin and its assembly into elastic fibres, so the protein contributes to elastogenesis and to the development of connective tissue. The UniProt annotation states that this form has no beta-galactosidase catalytic activity. It appears to be identical to the elastin-binding protein (EBP), a major component of a non-integrin cell surface receptor.
That receptor is expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes and certain cancer cell types. The same gene also gives rise to the lysosomal enzyme. According to the NCBI Gene summary, alternative splicing produces multiple transcript variants. At least one of these encodes a preproprotein that is proteolytically processed into the mature lysosomal enzyme. The enzyme catalyses the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. The protein belongs to the glycosyl hydrolase 35 family and is assigned to the HGNC group of beta galactosidases. It is found in the lysosome and in the perinuclear region of the cytoplasm.
The gene was previously named elastin receptor 1, 67kDa (ELNR1), reflecting its identification as the elastin-binding protein before its relationship to beta-galactosidase was established. Mutations in the gene may result in GM1-gangliosidosis and Morquio B syndrome. This link makes the protein relevant to lysosomal storage disease research as well as to studies of elastic fibre biology. The mouse ortholog is Glb1.
The protein acts as a recycling chaperone for tropoelastin, aiding its secretion and assembly into extracellular elastic fibres.
It has a functional role in connective tissue development, relevant to fibroblasts, smooth muscle cells and chondroblasts.
Mutations in GLB1 may result in GM1-gangliosidosis and Morquio B syndrome, making it a focus for lysosomal disease studies.
As the elastin-binding protein of a non-integrin receptor, it is studied on leukocytes and certain cancer cell types.
In elastin-producing cells it binds tropoelastin intracellularly and acts as a recycling molecular chaperone, helping its secretion and assembly into elastic fibres. In its lysosomal enzyme form, it hydrolyses terminal beta-linked galactose from gangliosides and other glycoconjugates.
GLB1 is also called EBP and ELNR1. Previous names include elastin receptor 1, 67kDa, and galactosidase, beta 1. The protein is listed as beta-galactosidase, and the elastin-binding protein appears to be identical to it. Alternative splicing yields multiple transcript variants.
Mutations in GLB1 may result in GM1-gangliosidosis and Morquio B syndrome. The mouse ortholog is Glb1. Check the datasheet of any product for its validated reactivity.
Elastic fibre proteins, other lysosomal enzymes and glycosidases with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P16278; product specifications from Assay Genie datasheets.