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3425 IDUA

3425

IDUA

iduronidase alpha-L-

protein-coding

Homo sapiens

基因描述

Type Description
Definition iduronidase alpha-L-

研究结论

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

名称对应

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

全选

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研究热度

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