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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
CLTA - Clathrin Light Chain A
Alias:
LCA
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Clathrin 是一种由重链和轻链组成的大可溶性蛋白质。它是覆盖坑和囊泡的细胞质面主要结构成分,在受体介导的内吞作用过程中捕获特定的宏分子。该基因编码两种被认为作为调节元件的轻链蛋白质之一。可变剪接导致多个转录变异体。在染色体8和12上已经发现了相关的假基因。[RefSeq,2010年5月提供]
Related ID:
NCBI:1211
ENSEMBL:ENSG00000122705
HGNC:2090
UNIPROT:P09496
OMIM:118960
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1211
12
5
21186 bp
27.08
15
--
4
16
CLTA 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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