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中文人类
XYLT2 - Xylosyltransferase 2
Alias:
SOS
XT2
XT-II
PXYLT2
xylT-II
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这个基因编码的蛋白质是木糖基转移酶的异构体，属于糖基转移酶家族。这个酶将木糖从UDP-木糖转移到核心蛋白质的特定丝氨酸残基上，并开始蛋白聚糖中包括硫酸软骨素、硫酸肝素、肝素和硫酸皮肤素的糖氨基聚糖链的生物合成。在硬皮病患者中增加的酶活性是确定系统性硬化症中硬化活性的诊断标志物。已经发现这个基因的替代剪接转录变异体。[RefSeq提供，2013年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
XYLT2 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
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Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
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Year
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