SGSH wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SGSH wild-type allele is located in the vicinity of 17q25.3 and is approximately 20 kb in length. This allele, which encodes N-sulphoglucosamine sulphohydrolase protein, is involved in lysosomal heparan sulfate degradation. Mutations in the gene are associated with mucopolysaccharidosis type IIIA.

**Synonyms:** - HSS - Heparan Sulfate Sulfatase Gene - MPS3A - Mucopolysaccharidosis Type IIIA Gene - N-Sulfoglucosamine Sulfohydrolase wt Allele - SFMD - Sulfamidase Gene