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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
MCU - Mitochondrial Calcium Uniporter
Alias:
HsMCU
C10orf42
CCDC109A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
激活钙通道活性;具有相同的蛋白质结合活性;作为单通道蛋白。参与多个过程,包括正调控线粒体钙离子浓度;正调控线粒体分裂;以及正调控中性粒细胞的趋化性。位于钙进入线粒体的上游或内部。位于线粒体内膜。是线粒体内膜的整合成分。是单通道复合物的一部分。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:90550
ENSEMBL:ENSG00000156026
HGNC:23526
UNIPROT:Q8NE86
OMIM:614197
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
90550
3
8
195552 bp
39.87
10
--
8
31
MCU Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
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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