QuickView for mucopolysaccharidosis type iiia (gene)

Gene Symbol:

SGSH Homo sapiens

Full name:

N-sulfoglucosamine sulfohydrolase

Synonyms:

HSS, MPS3A, SFMD, N-sulphoglucosamine sulphohydrolase, heparan sulfate sulfatase, mucopolysaccharidosis type IIIA, sulfoglucosamine sulfamidase, sulphamidase

Genomic Location:

Chr 17: 75797685-75808719

Description:

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 h...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  D. melanogaster ,  Macaca mulatta ,  Canis lupus familiaris ,  Gallus gallus ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

17q25.3

search → result