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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
LDHA - Lactate Dehydrogenase A
Alias:
LDHM
GSD11
PIG19
HEL-S-133P
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质在厌氧糖酵解的最后一步中催化L-乳酸和NAD转化为丙酮酸和NADH。这个蛋白质主要存在于肌肉组织中,属于乳酸脱氢酶家族。这个基因的突变与运动性肌球蛋白尿有关。已经发现这个基因有多个编码不同异型的转录变异体。人类基因组中包含几个这个基因的非转录假基因。[由RefSeq,2008年9月提供]
Related ID:
NCBI:3939
ENSEMBL:ENSG00000134333
HGNC:6535
UNIPROT:P00338
OMIM:150000
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3939
5
8
13863 bp
36.69
183
1
17
28
LDHA 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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Name
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Status
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Link
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References Literature
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