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中文人类
CSGALNACT1 - Chondroitin Sulfate N-acetylgalactosaminyltransferase 1
Alias:
ChGn
ChGn-1
SDJLABA
CSGalNAcT-1
beta4GalNAcT
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这个基因编码一种酶，将N-乙酰葡萄糖胺（GalNAc）转移到核心四糖接头和蛋白聚糖中的伸长的硫酸软骨素链。敲除正交的鼠基因表明，该蛋白对正常软骨发育和聚集蛋白聚糖代谢是必需的。这个基因的突变与多发性硬化症进展以及轻度骨发育异常和关节松弛有关。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CSGALNACT1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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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
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Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
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CAS Number
Status
Phase
Link
References Literature
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