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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
CKMT2 - Creatine Kinase, Mitochondrial 2
Alias:
SMTCK
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
线粒体肌酸激酶(MtCK)负责将高能磷酸盐从线粒体转移到细胞质载体肌酸。它属于肌酸激酶同功酶家族。它存在两种同功酶,肌节MtCK和泛在MtCK,由不同的基因编码。线粒体肌酸激酶以两种不同的寡聚形式存在:二聚体和八聚体,这与唯一的二聚体细胞质肌酸激酶同功酶不同。肌节线粒体肌酸激酶与泛在线粒体肌酸激酶的编码外显子有80%的同源性。这个基因包含与一些编码线粒体蛋白质的核基因共享的一些基序同源的序列,因此可能在线粒体生物发生过程中协调激活这些基因。已发现这个基因有三个编码相同蛋白质的转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:1160
ENSEMBL:ENSG00000131730
HGNC:1996
UNIPROT:P17540
OMIM:123295
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1160
3
10
33077 bp
47.50
18
--
3
3
CKMT2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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References Literature
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