Details for: IDUA

Gene ID: 3425

Symbol: IDUA

Ensembl ID: ENSG00000127415

Description: alpha-L-iduronidase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 61.3326
    Cell Significance Index: -9.5400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 36.6657
    Cell Significance Index: -9.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.7862
    Cell Significance Index: -9.6000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.5052
    Cell Significance Index: -9.3900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 3.4986
    Cell Significance Index: 56.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.4582
    Cell Significance Index: -9.7000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.3181
    Cell Significance Index: -7.1200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.8916
    Cell Significance Index: -4.1400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0897
    Cell Significance Index: 107.8000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8977
    Cell Significance Index: 810.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6137
    Cell Significance Index: 31.8800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6006
    Cell Significance Index: 8.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5736
    Cell Significance Index: 93.2900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5565
    Cell Significance Index: 33.4100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5507
    Cell Significance Index: 14.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5334
    Cell Significance Index: 14.5200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5076
    Cell Significance Index: 14.6300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4611
    Cell Significance Index: 9.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3921
    Cell Significance Index: 45.7000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3693
    Cell Significance Index: 17.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3633
    Cell Significance Index: 65.5000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3377
    Cell Significance Index: 23.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3199
    Cell Significance Index: 14.5000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2666
    Cell Significance Index: 7.4500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2215
    Cell Significance Index: 42.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1979
    Cell Significance Index: 27.1800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1952
    Cell Significance Index: 2.7400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1711
    Cell Significance Index: 34.3200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1709
    Cell Significance Index: 6.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1620
    Cell Significance Index: 19.9300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1457
    Cell Significance Index: 100.7900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1329
    Cell Significance Index: 2.8400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1199
    Cell Significance Index: 2.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1196
    Cell Significance Index: 7.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1194
    Cell Significance Index: 23.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1074
    Cell Significance Index: 15.6100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1065
    Cell Significance Index: 1.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0847
    Cell Significance Index: 46.2700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0733
    Cell Significance Index: 2.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0625
    Cell Significance Index: 22.4000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0610
    Cell Significance Index: 7.8200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0578
    Cell Significance Index: 0.7400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0331
    Cell Significance Index: 2.4700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0319
    Cell Significance Index: 14.0900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0229
    Cell Significance Index: 0.5300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0207
    Cell Significance Index: 3.5300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0180
    Cell Significance Index: 2.3300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0174
    Cell Significance Index: 0.1600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0169
    Cell Significance Index: 0.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0084
    Cell Significance Index: 15.9000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0028
    Cell Significance Index: 5.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0025
    Cell Significance Index: 3.8300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0003
    Cell Significance Index: 0.1800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0035
    Cell Significance Index: -0.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0042
    Cell Significance Index: -5.6600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0064
    Cell Significance Index: -4.8600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0075
    Cell Significance Index: -5.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0115
    Cell Significance Index: -8.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0154
    Cell Significance Index: -1.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0165
    Cell Significance Index: -7.5100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0170
    Cell Significance Index: -10.6100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0173
    Cell Significance Index: -9.7700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0209
    Cell Significance Index: -0.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0243
    Cell Significance Index: -1.7200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.0256
    Cell Significance Index: -0.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0271
    Cell Significance Index: -7.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0337
    Cell Significance Index: -2.5900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0340
    Cell Significance Index: -0.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0391
    Cell Significance Index: -4.6100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0400
    Cell Significance Index: -1.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0470
    Cell Significance Index: -5.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0518
    Cell Significance Index: -10.9100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0596
    Cell Significance Index: -1.9100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0708
    Cell Significance Index: -4.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0866
    Cell Significance Index: -9.0200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0888
    Cell Significance Index: -5.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0895
    Cell Significance Index: -3.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0918
    Cell Significance Index: -5.6300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0924
    Cell Significance Index: -2.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1032
    Cell Significance Index: -5.7900
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.1060
    Cell Significance Index: -2.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1112
    Cell Significance Index: -4.2100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1131
    Cell Significance Index: -1.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1150
    Cell Significance Index: -7.2500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1169
    Cell Significance Index: -9.2600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1420
    Cell Significance Index: -3.1100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1634
    Cell Significance Index: -3.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1644
    Cell Significance Index: -8.6300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1768
    Cell Significance Index: -1.8300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1777
    Cell Significance Index: -4.5400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1807
    Cell Significance Index: -9.1300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1812
    Cell Significance Index: -2.7300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1910
    Cell Significance Index: -5.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1941
    Cell Significance Index: -6.7500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2001
    Cell Significance Index: -7.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2087
    Cell Significance Index: -6.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2113
    Cell Significance Index: -6.7300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2227
    Cell Significance Index: -7.2900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2245
    Cell Significance Index: -5.7700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2395
    Cell Significance Index: -4.1100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** IDUA is a lysosomal enzyme responsible for the degradation of dermatan sulfate and chondroitin sulfate. The enzyme catalyzes the hydrolysis of these GAGs, releasing glucose and uronic acids. IDUA is a glycosyl hydrolase enzyme, specifically belonging to family 4, and consists of 460 amino acids. The gene encoding IDUA is located on chromosome 4q21.3 and is expressed in various tissues, including the brain, kidney, and liver. **Pathways and Functions:** IDUA is involved in the catabolism of glycosaminoglycans, which are critical components of the extracellular matrix and play a role in maintaining tissue structure and function. The enzyme's primary function is to break down dermatan sulfate and chondroitin sulfate, which are produced by the synthesis of glycosaminoglycans. The degradation products of these GAGs are then recycled and reused. IDUA also plays a role in the regulation of cell growth, differentiation, and signaling pathways. **Clinical Significance:** The deficiency of IDUA leads to a group of disorders known as mucopolysaccharidoses (MPS), which are characterized by the accumulation of GAGs in various tissues. The most common forms of MPS are Hurler syndrome (MPS I), Hunter syndrome (MPS II), and Scheie syndrome (MPS I-S). These disorders are caused by mutations in the IDUA gene, leading to the accumulation of dermatan sulfate and chondroitin sulfate. The clinical manifestations of MPS include: * Coarse facial features * Clouded corneas * Joint stiffness and limited mobility * Respiratory problems * Cardiac defects * Cognitive impairment **Disease Association:** IDUA is significantly associated with several diseases, including: * Hurler syndrome (MPS I): a severe form of MPS characterized by the accumulation of dermatan sulfate and chondroitin sulfate. * Hunter syndrome (MPS II): a milder form of MPS characterized by the accumulation of dermatan sulfate and chondroitin sulfate. * Scheie syndrome (MPS I-S): a rare form of MPS characterized by the accumulation of dermatan sulfate and chondroitin sulfate. * Mucopolysaccharidoses (MPS): a group of disorders characterized by the accumulation of GAGs in various tissues. **Signaling Pathways:** IDUA is also involved in various signaling pathways, including: * Wnt/β-catenin signaling pathway: IDUA regulates the activity of this pathway, which is involved in cell growth, differentiation, and survival. * Notch signaling pathway: IDUA regulates the activity of this pathway, which is involved in cell growth, differentiation, and survival. * PI3K/AKT signaling pathway: IDUA regulates the activity of this pathway, which is involved in cell growth, differentiation, and survival. **Conclusion:** In conclusion, alpha-L-iduronidase (IDUA) plays a critical role in the degradation of glycosaminoglycans, particularly dermatan sulfate and chondroitin sulfate. The deficiency of IDUA leads to the accumulation of these GAGs, resulting in various clinical manifestations. Understanding the role of IDUA in glycosaminoglycan metabolism and its involvement in signaling pathways can provide valuable insights into the development of therapeutic strategies for the treatment of mucopolysaccharidoses.

Genular Protein ID: 2574505622

Symbol: IDUA_HUMAN

Name: Alpha-L-iduronidase

UniProtKB Accession Codes:

P35475 B3KWK6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 5 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 11 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1946389

Title: Human alpha-L-iduronidase: cDNA isolation and expression.

PubMed ID: 1946389

DOI: 10.1073/pnas.88.21.9695

PubMed ID: 1505961

Title: Structure and sequence of the human alpha-L-iduronidase gene.

PubMed ID: 1505961

DOI: 10.1016/0888-7543(92)90053-u

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 8680403

Title: Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

PubMed ID: 8680403

DOI: 10.1002/humu.1380060403

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24036510

Title: Insights into mucopolysaccharidosis I from the structure and action of alpha-L-iduronidase.

PubMed ID: 24036510

DOI: 10.1038/nchembio.1357

PubMed ID: 23959878

Title: Human alpha-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module.

PubMed ID: 23959878

DOI: 10.1073/pnas.1306939110

PubMed ID: 8019563

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

PubMed ID: 8019563

DOI: 10.1002/humu.1380030316

PubMed ID: 8401515

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

PubMed ID: 8401515

DOI: 10.1093/hmg/2.8.1311

PubMed ID: 8213840

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

PubMed ID: 8213840

PubMed ID: 8328452

Title: 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.

PubMed ID: 8328452

PubMed ID: 1301941

Title: Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PubMed ID: 1301941

DOI: 10.1002/humu.1380010412

PubMed ID: 7951228

Title: 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.

PubMed ID: 7951228

DOI: 10.1093/hmg/3.6.861

PubMed ID: 1362562

Title: PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.

PubMed ID: 1362562

DOI: 10.1007/bf00220095

PubMed ID: 8242073

Title: Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

PubMed ID: 8242073

DOI: 10.1093/hmg/2.9.1471

PubMed ID: 7550232

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

PubMed ID: 7550232

DOI: 10.1002/humu.1380060111

PubMed ID: 7550242

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

PubMed ID: 7550242

DOI: 10.1002/humu.1380060119

PubMed ID: 8554071

Title: Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

PubMed ID: 8554071

PubMed ID: 10466419

Title: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

PubMed ID: 10466419

DOI: 10.1034/j.1399-0004.1999.560109.x

PubMed ID: 10735634

Title: Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.

PubMed ID: 10735634

DOI: 10.1034/j.1399-0004.2000.570207.x

PubMed ID: 12559846

Title: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PubMed ID: 12559846

DOI: 10.1016/s1096-7192(02)00200-7

PubMed ID: 15300847

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

PubMed ID: 15300847

DOI: 10.1002/humu.20081

PubMed ID: 19396826

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

PubMed ID: 19396826

DOI: 10.1002/ajmg.a.32812

PubMed ID: 21394825

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

PubMed ID: 21394825

DOI: 10.1002/humu.21479

PubMed ID: 25256405

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

PubMed ID: 25256405

DOI: 10.1111/cge.12507

PubMed ID: 31194252

Title: Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

PubMed ID: 31194252

DOI: 10.1111/cge.13583

Sequence Information:

  • Length: 653
  • Mass: 72670
  • Checksum: 9D2399B22FD172BD
  • Sequence:
    • MRPLRPRAAL LALLASLLAA PPVAPAEAPH LVHVDAARAL WPLRRFWRST GFCPPLPHSQ 
ADQYVLSWDQ QLNLAYVGAV PHRGIKQVRT HWLLELVTTR GSTGRGLSYN FTHLDGYLDL 
LRENQLLPGF ELMGSASGHF TDFEDKQQVF EWKDLVSSLA RRYIGRYGLA HVSKWNFETW 
NEPDHHDFDN VSMTMQGFLN YYDACSEGLR AASPALRLGG PGDSFHTPPR SPLSWGLLRH 
CHDGTNFFTG EAGVRLDYIS LHRKGARSSI SILEQEKVVA QQIRQLFPKF ADTPIYNDEA 
DPLVGWSLPQ PWRADVTYAA MVVKVIAQHQ NLLLANTTSA FPYALLSNDN AFLSYHPHPF 
AQRTLTARFQ VNNTRPPHVQ LLRKPVLTAM GLLALLDEEQ LWAEVSQAGT VLDSNHTVGV 
LASAHRPQGP ADAWRAAVLI YASDDTRAHP NRSVAVTLRL RGVPPGPGLV YVTRYLDNGL 
CSPDGEWRRL GRPVFPTAEQ FRRMRAAEDP VAAAPRPLPA GGRLTLRPAL RLPSLLLVHV 
CARPEKPPGQ VTRLRALPLT QGQLVLVWSD EHVGSKCLWT YEIQFSQDGK AYTPVSRKPS 
TFNLFVFSPD TGAVSGSYRV RALDYWARPG PFSDPVPYLE VPVPRGPPSP GNP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.