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

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

rs148775298 in SLC26A1;IDUA gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs121965020 in SLC26A1;IDUA gene and Hurler-Scheie Syndrome PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 29393969 2018 Worldwide distribution of common IDUA pathogenic variants.

PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

rs121965020 in SLC26A1;IDUA gene and Mucopolysaccharidosis I PMID 9787109 1998 Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

PMID 9427149 1997 Mutations among Italian mucopolysaccharidosis type I patients.

PMID 8680403 1995 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

PMID 10215409 1998 Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 8401515 1993 Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

PMID 21831683 2011 A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

PMID 24314423 2013 The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood.

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.

PMID 18796143 2008 The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 1301941 1992 We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes.

PMID 8664897 1996 In the 19 Japanese MPS-I patients, the 704ins5 mutation accounted for 7 of 38 alleles (18%), while the R89Q accounted for 9 of 38 (24%).

PMID 14559116 2003 This was consistent with MPS I patients, with an R89W allele, having a less severe clinical presentation compared to MPS I patients with either a double or single allelic R89Q mutation.

PMID 21480867 2012 Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

PMID 12189649 2002 Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.

PMID 15300847 2004 Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 7550242 1995 Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

PMID 12559846 2003 Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PMID 27896125 2014 Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.

PMID 22306676 2012 Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

PMID 14559116 2003 This was consistent with MPS I patients, with an R89W allele, having a less severe clinical presentation compared to MPS I patients with either a double or single allelic R89Q mutation.

PMID 8664897 1996 Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

PMID 12203999 2002 Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

PMID 19839758 2009 Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.

rs121965020 in SLC26A1;IDUA gene and Mucopolysaccharidosis V PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 8213840 1993 R89Q and 678-7g-->a were found to be present in 40% of Scheie syndrome alleles.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 15300847 2004 Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

PMID 25256405 2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

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.

PMID 12559846 2003 Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PMID 7550242 1995 Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

PMID 7550232 1995 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

PMID 8213840 1993 Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

rs148832260 in SLC26A1;IDUA gene and NEPHROLITHIASIS, CALCIUM OXALATE PMID 27210743 2016 Mutations in SLC26A1 Cause Nephrolithiasis.

rs121965020 in SLC26A1;IDUA gene and Pfaundler-Hurler Syndrome 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.

PMID 10215409 1998 Patient with Q70X/Q70X genotype had a severe Hurler phenotype.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 11735025 2001 In this study, 85 MPS I families (73 Hurler, 5 Hurler/Scheie, 7 Scheie) were screened for 9 known mutations (Q70X, A75T, 474-2a>g, L218P, A327P, W402X, P533R, R89Q, 678-7g>a).

PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 7550232 1995 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

PMID 27146977 2016 Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

PMID 8019563 1994 Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

PMID 16438163 2005 The molecular basis of mucopolysaccharidosis type I in two Thai patients.

PMID 12203999 2002 Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

PMID 25557439 2015 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

PMID 25256405 2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.