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中文人类
IDUA - Alpha-L-iduronidase
Alias:
IDA
MPS1
MPSI
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这个基因编码一种酶，能够水解两种糖胺聚糖的皮肤素硫酸盐和肝素硫酸盐的末端α-L-艾杜糖酸残基。这种水解作用是这些糖胺聚糖在溶酶体中降解所必需的。这个基因中的突变导致酶缺乏，从而引发常染色体隐性遗传病粘多糖症1型（MPS I）。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
IDUA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
