Log In|Sign Up
中文人类
MEF2C - Myocyte Enhancer Factor 2C
Alias:
NEDHSIL
DEL5q14.3
C5DELq14.3
Favorite
这个基因座编码MADS盒转录增强子因子2（MEF2）家族的一员，该家族在肌生成中发挥作用。编码的蛋白质，MEF2多肽C，具有反式激活和DNA结合活性。该蛋白质可能在维持肌肉细胞的不同状态中发挥作用。该基因座的突变和缺失与严重的认知障碍、刻板动作、癫痫和脑畸形有关。已经描述了可变剪接的转录变异体。[由RefSeq，2010年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MEF2C 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
