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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
SLC25A4 - Solute Carrier Family 25 Member 4
Alias:
T1
ANT
AAC1
ANT1
PEO2
PEO3
ANT 1
PEOA2
MTDPS12
MTDPS12A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是溶质载体蛋白基因的线粒体载体亚家族的成员。这个基因的产品作为一个选通的孔,将ADP从细胞质转移到线粒体基质,并将ATP从线粒体基质转移到细胞质。该蛋白质形成一个嵌入线粒体内膜的同源二聚体。这个基因的突变已被证明会导致常染色体显性进行性外展眼肌麻痹和家族性肥厚性心肌病。[由RefSeq,2013年6月提供]
Related ID:
NCBI:291
ENSEMBL:ENSG00000151729
HGNC:10990
UNIPROT:P12235
OMIM:103220
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
291
1
4
7117 bp
33.06
210
9
9
24
SLC25A4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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References Literature
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No Data Found!
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