Gene: IDUA
Alternate names for this Gene: IDA|MPS1|MPSI
Gene Summary: This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I).
Gene is located in Chromosome: 4
Location in Chromosome : 4p16.3
Description of this Gene: alpha-L-iduronidase
Type of Gene: protein-coding
Gene: SLC26A1
Alternate names for this Gene: CAON|EDM4|SAT-1|SAT1
Gene Summary: This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified.
Gene is located in Chromosome: 4
Location in Chromosome : 4p16.3
Description of this Gene: solute carrier family 26 member 1
Type of Gene: protein-coding