Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3425
MIM: 252800
HGNC: 5391
Ensembl: ENSG00000127415
Variants:
dbSNP: 3425
ClinVar: 3425
TCGA: ENSG00000127415
COSMIC: IDUA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000127415 | ENST00000247933 | P35475 |
| ENSG00000127415 | ENST00000502910 | D6R9D5 |
| ENSG00000127415 | ENST00000504568 | H0Y9R9 |
| ENSG00000127415 | ENST00000514224 | P35475 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36951468 | 2023 | A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings. | 0 |
| 36951468 | 2023 | A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings. | 0 |
| 34783964 | 2022 | Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells. | 1 |
| 34783964 | 2022 | Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells. | 1 |
| 34189746 | 2021 | Mucopolysaccharidoses type I gene therapy. | 3 |
| 34189746 | 2021 | Mucopolysaccharidoses type I gene therapy. | 3 |
| 31400021 | 2020 | IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families. | 2 |
| 31758674 | 2020 | Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. | 2 |
| 31926052 | 2020 | Estimated birth prevalence of mucopolysaccharidoses in Brazil. | 10 |
| 31943709 | 2020 | Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus". | 0 |
| 31400021 | 2020 | IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families. | 2 |
| 31758674 | 2020 | Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. | 2 |
| 31926052 | 2020 | Estimated birth prevalence of mucopolysaccharidoses in Brazil. | 10 |
| 31943709 | 2020 | Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus". | 0 |
| 31275456 | 2019 | Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis. | 5 |
Citation
Dessen P
IDUA (alpha-L-iduronidase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64502/idua-(alpha-l-iduronidase)
