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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
MTCH2 - Mitochondrial Carrier 2
Alias:
MIMP
HSPC032
SLC25A50
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码位于内质网膜的SLC25家族成员,该家族成员参与许多代谢途径和细胞功能。人类基因组关联研究已经鉴定出与肥胖症相关的几个基因座中的单核苷酸多态性。这个基因是这样一个基因座,它在白色脂肪组织和脂肪细胞中高度表达,被认为在脂肪细胞分化和生物学中起着调节作用。已经发现这个基因的不同剪接转录变异体,它们编码不同的异构体。最近的一项研究表明,这个基因是一个真实的读码框延伸靶标,可以通过使用可选的框内翻译终止密码子从相同的mRNA产生两种异构体。[由RefSeq提供,2017年12月]
Related ID:
NCBI:23788
ENSEMBL:ENSG00000109919
HGNC:17587
UNIPROT:Q9Y6C9
OMIM:613221
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23788
11
13
38243 bp
33.33
15
--
10
9
MTCH2 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
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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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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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