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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
CKMT1A - Creatine Kinase, Mitochondrial 1A
Alias:
CKMT1
U-MtCK
mia-CK
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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(MtCK)激酶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。它以两种同功酶存在,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,这与仅限于二聚体的细胞质肌酸激酶同功酶不同。许多具有不良预后恶性癌症已经显示出泛在线粒体肌酸激酶的过度表达;这可能与高能周转有关,并通过凋亡消除癌细胞失败。泛在线粒体肌酸激酶与肌节线粒体肌酸激酶的编码外显子具有80%的同源性。已经识别出位于染色体15上相互靠近的两个基因,它们编码相同的线粒体肌酸激酶蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:548596
ENSEMBL:ENSG00000223572
HGNC:31736
UNIPROT:P12532
OMIM:613415
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
548596
10
9
6437 bp
47.04
6
--
3
5
CKMT1A 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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