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中文人类
GALNS - Galactosamine (N-acetyl)-6-sulfatase
Alias:
GAS
MPS4A
GalN6S
GALNAC6S
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这个基因编码N-乙酰半乳糖胺-6-硫酸酯酶，这是一种溶酶体外水解酶，对于糖胺聚糖的降解是必需的，包括硫酸角质素和硫酸软骨素6-硫酸酯。序列变异，包括点突变、错义突变和无义突变，以及影响剪接的那些，导致这种酶的缺乏。这种酶的缺乏导致Morquio A综合征，一种溶酶体储存障碍。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GALNS 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
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