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中文人类
C1GALT1C1 - C1GALT1 Specific Chaperone 1
Alias:
TNPS
COSMC
MST143
C1GALT2
HSPC067
C38H2-L1
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这个基因编码一个类似于核心1 β1,3-半乳糖基转移酶1的II型跨膜蛋白，该酶催化O连接的糖链上的核心1结构的合成，也称为Thomsen-Friedenreich抗原。这个基因产物本身缺乏半乳糖基转移酶活性，而是作为分子伴侣，对核心1 β1,3-半乳糖基转移酶1的折叠、稳定性和全活性是必需的。这个基因的突变与Tn综合征有关。已经发现了编码相同蛋白质的替代剪接转录变异体。[RefSeq,2009年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
C1GALT1C1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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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
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Residues
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Name
MGI
Strain of Origin
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References Literature
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