Glucuronidase Beta (GUSb) Antibody – Rabbit Polyclonal

GUSB: Plays an important role in the degradation of dermatan and keratan sulfates. Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7); also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. Mucopolysaccharidosis type 7 is associated with non- immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Belongs to the glycosyl hydrolase 2 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Carbohydrate Metabolism - pentose and glucuronate interconversions; Carbohydrate Metabolism - starch and sucrose; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC 3.2.1.31; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; Xenobiotic Metabolism - drug metabolism - other enzymes

Chromosomal Location of Human Ortholog: 5 G1.3|5 68.32 cM

Cellular Component: endoplasmic reticulum; extracellular space; intracellular membrane-bound organelle; lysosome; membrane

Molecular Function: beta-glucuronidase activity; carbohydrate binding; hydrolase activity; hydrolase activity, acting on glycosyl bonds; hydrolase activity, hydrolyzing O-glycosyl compounds; protein domain specific binding; receptor binding

Biological Process: carbohydrate metabolic process; metabolic process