beta Galactosidase (Biotin)*B1G1

IgG

beta Galactosidase

BiotinConjugation

10 mg/ml

0. 02 M Potassium Phosphate 0. 15 M Sodium Chloride pH 7. 2 10 mg/ml bovine serum albumin containing 0. 01% sodium azide

Cytoplasmic This highly active polyclonal antibody is directed against the bacterial form of the enzyme and may be used to detect any beta-galactosidase expression by the lacZ gene. This reagent is specifically designed for screening and recovery of fusion proteins from expression systems with lacZ gene cloning sites.

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.

Isoform 1: Lysosome.

Defects in GLB1 are the cause of GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]; also known as infantile GM1-gangliosidosis. GM1-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1G1 is characterized by onset within the first three months of life central nervous system degeneration coarse facial features hepatosplenomegaly skeletal dysmorphology reminiscent of Hurler syndrome and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.

Defects in GLB1 are the cause of GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]; also known as adult or chronic GM1-gangliosidosis. GM1G3 is characterized by a variable phenotype. Patients show mild skeletal abnormalities dysarthria gait disturbance dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive.

Belongs to the glycosyl hydrolase 35 family [view classification].