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

rs3822020 in IDUA;SLC26A1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs139024319 in IDUA;SLC26A1 gene and NEPHROLITHIASIS, CALCIUM OXALATE PMID 27210743 2016 Mutations in SLC26A1 Cause Nephrolithiasis.

rs121965022 in IDUA;SLC26A1 gene and Pfaundler-Hurler Syndrome PMID 27511503 2016 Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

PMID 8328452 1993 Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

PMID 23430803 2013 Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.