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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
LDHB - Lactate Dehydrogenase B
Alias:
LDH-B
LDH-H
LDHBD
TRG-5
HEL-S-281
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码乳酸脱氢酶B亚基,该酶催化丙酮酸和乳酸之间的互变,同时伴随在糖酵解后的过程中NADH和NAD+的互变。已经发现这个基因的替代剪接转录变异体。最近的研究表明,通过使用一个替代的帧内翻译终止密码子,通过读码框读穿机制产生一个C-末端延伸的异构体,该异构体定位在过氧化物酶体中。这个基因的突变与乳酸脱氢酶B缺乏症有关。在染色体X、5和13上已经发现了假基因。[RefSeq,2016年2月提供]
Related ID:
NCBI:3945
ENSEMBL:ENSG00000111716
HGNC:6541
UNIPROT:P07195
OMIM:150100
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3945
7
8
22501 bp
36.64
42
1
5
26
LDHB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Type
Name
MGI
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No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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