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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
CCHCR1 - Coiled-coil Alpha-helical Rod Protein 1
Alias:
HCR
SBP
pg8
C6orf18
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有五个螺旋杆状α螺旋结构的蛋白质,被认为通过与mRNA脱帽蛋白4相互作用来调节mRNA代谢。它定位到mRNA代谢场所P-体,其N端对于这种亚细胞定位是必需的,表明它是一个P-体组件。这个基因中自然发生的突变与银屑病有关。[RefSeq提供,2017年5月]
Related ID:
NCBI:54535
ENSEMBL:ENSG00000204536
HGNC:13930
UNIPROT:Q8TD31
OMIM:605310
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54535
25
18
15759 bp
88.67
36
--
4
9
CCHCR1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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References Literature
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