基因名:
SGSH
产品别名:
HSS; MPS3A; SFMD; SGSH; N-sulfoglucosamine sulfohydrolase; N-sulfoglucosamine sulfohydrolase; N-sulphoglucosamine sulphohydrolase; heparan sulfate sulfatase; mucopolysaccharidosis type IIIA; sulfoglucosamine sulfamidase; sulphamidase; N-磺氨基葡糖磺基氢化酶(SGSH); 磺氨基葡糖硫酸胺酶;
背景信息:
N-Sulphoglucosamine Sulphohydrolase (SGSH) is an important member of the sulfatase family which is involved in the degradation of heparin sulfate. SGSH binds one calcium ion per subunit as a cofactor. SGSH catalyzes N-sulfo-D-glucosamine and H2O to D-glucosamine and sulfate. SGSH deficiency is result in mucopolysaccharidosis type 3A (MPS3A), a recessive lysosomal storage disease characterized by neurological dysfunction but relatively mild somatic manifestations.