Gene: SGSH

Alternate names for this Gene: HSS|MPS3A|SFMD

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: N-sulfoglucosamine sulfohydrolase

Type of Gene: protein-coding

Gene: SLC26A11

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: solute carrier family 26 member 11

Type of Gene: protein-coding