IDUA - alpha-L-iduronidase Gene
Also Known as IDA; MPS1; MPSI
Species: Homo sapiens
About IDUA
This gene has 13 transcripts (splice variants), 194 orthologues and is associated with 7 phenotypes. Ubiquitous expression in spleen (RPKM 4.2), stomach (RPKM 4.1) and 25 other tissues.
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). [provided by RefSeq, Jul 2008]
IDUA Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000203.5 | NP_000194.2 | alpha-L-iduronidase isoform a precursor |
| NM_001363576.1 | NP_001350505.1 | alpha-L-iduronidase isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables L-iduronidase activity |
IDA
IDA: Inferred from direct assay
|
24036510 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dermatan sulfate catabolic process |
IDA
IDA: Inferred from direct assay
|
24036510 | GOA |
| acts upstream of or within heparin catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
21873421 | GOA |
IDUA Protein Structure
Glyco_hydro_39: Glycosyl hydrolases family 39 (26 - 543)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 653 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alpha-L-iduronidase |
|
Recombinant IDUA Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72242 | IDUA Protein, Human (His) | P35475-1 (A28-P653) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hurler Syndrome |
|
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| Scheie Syndrome |
|
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| Hurler-Scheie Syndrome |
|
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| Nephrolithiasis, Calcium Oxalate |
|
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| Mucopolysaccharidoses |
|
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| Mucopolysaccharidosis-Plus Syndrome |
|
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| Mucopolysaccharidosis, Type Vii |
|
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| Lysosomal Storage Disease |
|
|
| Metachromatic Leukodystrophy |
|
|
| Mucopolysaccharidosis, Type Iva |
|
|
| Mucopolysaccharidosis, Type Iiib |
|
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| Glycogen Storage Disease Ii |
|
|
| Mucopolysaccharidosis, Type Ii |
|
|
| Mucopolysaccharidosis, Type Ivb |
|
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| Mucopolysaccharidosis Iii |
|
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| Mucopolysaccharidosis, Type Iiid |
|
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| Mucopolysaccharidosis, Type Vi |
|
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| Mucopolysaccharidosis, Type Iiic |
|
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| Mucopolysaccharidosis, Type Iiia |
|
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| Mucopolysaccharidosis Iv |
|
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| Mongolian Spot |
|
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| Krabbe Disease |
|
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| Gaucher'S Disease |
|
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| Huntington Disease |
|
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| Mannosidosis, Alpha B, Lysosomal |
|
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| Nerve Compression Syndrome |
|
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| Fucosidosis |
|
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| Umbilical Hernia |
|
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| Sphingolipidosis |
|
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| Alternating Exotropia |
|
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| Leukodystrophy |
|
|
| Niemann-Pick Disease, Type A |
|
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| Central Nervous System Disease |
|
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| Gm1 Gangliosidosis |
|
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| Mucolipidosis Ii Alpha/Beta |
|
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| Galactosialidosis |
|
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| Gingival Hypertrophy |
|
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| Aspartylglucosaminuria |
|
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| Gangliosidosis |
|
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| Tay-Sachs Disease |
|
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| Lysosomal Acid Lipase Deficiency |
|
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| Mucolipidosis |
|
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| Lysosomal And Lipase Deficiency |
|
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| Tyrosinemia, Type I |
|
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| Inguinal Hernia |
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| Gm2 Gangliosidosis |
|
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| Aortic Valve Insufficiency |
|
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| Neuronal Ceroid Lipofuscinosis |
|
|
| Gaucher Disease, Type I |
|
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| Niemann-Pick Disease |
|
|
| Osteochondrodysplasia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | IDUA | VGNC | VGNC:41867 |
| Mus musculus | IDUA | MGD | MGI:96418 |
| Bos taurus | IDUA | VGNC | VGNC:30037 |
| Rattus norvegicus | IDUA | RGD | RGD:1310943 |
| Macaca mulatta | IDUA | VGNC | VGNC:106621 |
| Felis catus | IDUA | VGNC | VGNC:67694 |
| Others | IDUA | NCBI |