SGSH wt Allele

Preferred Label : SGSH wt Allele;

NCIt synonyms : N-Sulfoglucosamine Sulfohydrolase wt Allele; MPS3A; Mucopolysaccharidosis Type IIIA Gene; Sulfamidase Gene; HSS; SFMD; Heparan Sulfate Sulfatase Gene;

NCIt 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.;

GenBank Accession Number : BC047318;

Détails

Origin ID

C207878;

OMIM relation
- N-sulfoglucosamine sulfohydrolase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25.3 [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

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