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中文人类
MYBPC1 - Myosin Binding Protein C1
Alias:
LCCS4
CMYP16
MYBPCC
MYBPCS
MYOTREM
ssMyBP-C
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这个基因编码肌球蛋白结合蛋白C家族的一员。肌球蛋白结合蛋白C家族成员是存在于横纹肌A带的跨桥承载区（C区）的肌球蛋白相关蛋白。编码的蛋白质是肌球蛋白结合蛋白C的慢速骨骼肌异构体，通过将肌型肌酸激酶招募到肌球蛋白纤丝上，在肌肉收缩中起到重要作用。这个基因的突变与Ⅰ型远端关节挛缩症有关。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2011年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MYBPC1 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
IF
