Article
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Human mutation - 1 Apr 2009
Tomatsu Shunji, Montaño Adriana M, Dung Vu Chi, Grubb Jeffrey H, Sly William S
Abstract excerpt
Mucopolysaccharidosis VII (MPS VII; Sly syndrome) is an autosomal recessive disorder caused by a deficiency of beta-glucuronidase (GUS, EC 3.2.1.31; GUSB). GUS is required to degrade glycosaminoglycans (GAGs), including heparan sulfate (HS), dermatan sulfate (DS), and chondroitin-4,6-sulfate (CS). Accumulation of undegraded GAGs in lysosomes of affected tissues leads to mental retardation, short stature,...
Topics
- Amino Acid Sequence
- Animals
- Disease Models, Animal
- Glucuronidase
- Humans
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Mutation
- Polymorphism, Genetic
- Sequence Homology, Amino Acid