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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
MEF2D - Myocyte Enhancer Factor 2D
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是肌细胞特异性增强子因子2(MEF2)家族的一员,该家族成员参与肌肉和神经元细胞分化和发育的控制,并受II类组蛋白去乙酰化酶的调节。由于易位导致编码蛋白与无精子症相关蛋白1(DAZAP1)的融合,已在急性淋巴细胞白血病细胞系中发现,提示其在白血病发生中的作用。编码的蛋白质可能也参与帕金森病和肌营养不良。可变剪接产生多种转录变异体。[RefSeq,2012年10月提供]
Related ID:
NCBI:4209
ENSEMBL:ENSG00000116604
HGNC:6997
UNIPROT:Q14814
OMIM:600663
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
4209
22
12
37049 bp
55.94
11
--
11
25
MEF2D Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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