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中文人类
TCAP - Titin-cap
Alias:
TELE
CMD1N
CMH25
T-cap
LGMD2G
LGMDR7
telethonin
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肌节组装受肌肉蛋白 titin 的调节。Titin 是一种具有激酶活性的巨型弹性蛋白，其长度占肌节的一半。它作为肌原纤维和其他肌肉相关蛋白质附着的大架。该基因编码一种在横纹肌和心肌中发现的蛋白质，与 titin 的 Z1-Z2 结构域结合，并作为 titin 激酶的底物，认为对肌节组装至关重要。该基因的突变与四肢带型肌营养不良 2G 有关。[由 RefSeq，2008 年 7 月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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TCAP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Anatomical Category
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Mutations
Transcripts & Proteins
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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
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Abundance
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Cell-specific RNA expression
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References Literature
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