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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
HSPD1 - Heat Shock Protein Family D (Hsp60) Member 1
Alias:
HLD4
CPN60
GROEL
HSP60
HSP65
SPG13
HSP-60
HuCHA60
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码分子伴侣家族的一员。编码的线粒体蛋白可能作为先天免疫系统的信号分子发挥作用。这个蛋白对新导入线粒体的蛋白质折叠和组装是必需的。这个基因与其相关家族成员相邻,这两个基因之间的区域作为双向启动子功能。几个假基因与这个基因相关。已经在这个基因中鉴定出两个编码相同蛋白质的转录变异体。与这个基因相关的突变导致常染色体隐性痉挛性截瘫13。[RefSeq,2010年6月提供]
Related ID:
NCBI:3329
ENSEMBL:ENSG00000144381
HGNC:5261
UNIPROT:P10809
OMIM:118190
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3329
2
12
13691 bp
61.05
237
2
7
42
HSPD1 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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