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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
POMP - Proteasome Maturation Protein
Alias:
UMP1
PRAAS2
HSPC014
C13orf12
PNAS-110
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种分子伴侣,可以结合20S前蛋白体组件,对20S蛋白体的形成是必不可少的。20S蛋白体是26S蛋白体复合物的蛋白水解活性组成部分。在20S蛋白体成熟完成之前,编码的蛋白质会被降解。这个基因的5'UTR中的一个变异与KLICK综合征有关,这是一种罕见的皮肤疾病。[RefSeq,2010年8月提供]
Related ID:
NCBI:51371
ENSEMBL:ENSG00000132963
HGNC:20330
UNIPROT:Q9Y244
OMIM:613386
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51371
1
6
19830 bp
15.79
85
2
3
17
POMP 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
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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