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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
MYLK - Myosin Light Chain Kinase
Alias:
KRP
AAT7
MLCK
MLCK1
MMIHS
MYLK1
MMIHS1
MYLK-L
smMLCK
MLCK108
MLCK210
MSTP083
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于免疫球蛋白基因超家族的肌肉成员,编码肌钙蛋白轻链激酶,这是一种钙/钙调素依赖的酶。这种激酶使肌钙蛋白调节轻链磷酸化,以促进肌钙蛋白与肌动蛋白丝的相互作用,产生收缩活性。这个基因编码平滑肌和非肌肉同型物。此外,利用3'区域中的一个内含子的独立启动子,它编码telokin,这是一种与小鼠肌钙蛋白轻链激酶C-末端序列相同的小蛋白质,它在平滑肌中独立表达,并稳定未磷酸化的肌钙蛋白丝。一个假基因位于染色体3的p臂上。已经发现了四种转录变异体,它们产生了四种钙/钙调素依赖的酶的同型物,以及两种转录本,它们产生了两种telokin的同型物。还发现了其他变异体,但缺乏完整的长片段转录本。[RefSeq,2008年7月提供]
Related ID:
NCBI:4638
ENSEMBL:ENSG00000065534
HGNC:7590
UNIPROT:Q15746
OMIM:600922
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4638
24
34
274284 bp
210.72
1720
4
8
42
MYLK Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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