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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
ETFBKMT - Electron Transfer Flavoprotein Subunit Beta Lysine Methyltransferase
Alias:
METTL20
C12orf72
ETFB-KMT
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有热激蛋白结合活性和蛋白质-赖氨酸 N-甲基转移酶活性。参与电子传递活性的负调控;使用酰基辅酶A脱氢酶负调控脂肪酸β-氧化;以及肽基-赖氨酸三甲基化。位于线粒体基质中。蛋白质含复杂的一部分。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:254013
ENSEMBL:ENSG00000139160
HGNC:28739
UNIPROT:Q8IXQ9
OMIM:615256
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
254013
6
4
25955 bp
29.46
3
--
6
6
ETFBKMT Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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