靶标:
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 is an enzyme that in humans is encoded by the SGSH gene. This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.