Type | Description |
---|---|
Definition | iduronidase alpha-L- |
Date | Results | Publications |
---|---|---|
2021-03-27 14:43:00 | Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. | 31758674 |
2021-01-16 15:59:00 | 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"". | 31943709 |
2021-01-09 13:27:00 | Estimated birth prevalence of mucopolysaccharidoses in Brazil. | 31926052 |
2020-06-20 12:23:00 | "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay. | 31319022 |
2020-04-18 10:22:00 | IDUA gene mutation is associated with mucopolysaccharidosis type 1. | 31473686 |
Type | IDs |
---|---|
Synonymous | IDA, MPS1 |
Gene |
UniProtKB-ID:
IDUA_HUMAN
UniprotKB:
P35475
UniParc:
UPI00004571D0,
UPI00004A2418
EMBL:
AC019103,
M95740,
M95739,
AK125223,
M74715
Ensembl:
ENSG00000127415
KO:
hsa:3425
|
Nucleutide sequences |
EMBL-CDS:
AAA51698.1,
AAA81589.1,
BAG54168.1
Ensembl_TRS:
ENST00000514224,
ENST00000247933
|
Protein sequencees |
Ensembl_PRO:
ENSP00000425081,
ENSP00000247933
RefSeq:
NP_000194.2,
NP_001350505.1,
XP_016863652.1,
XP_011511763.1
|
Others |
UniRef100:
UniRef100_P35475
UniRef90:
UniRef90_P35475
UniRef50:
UniRef50_P35475
UniGene:
Hs.89560
CCDS:
CCDS3343.1
|
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---|---|---|---|---|---|---|---|---|
Refseq |
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