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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
GOPC - Golgi Associated PDZ And Coiled-coil Motif Containing
Alias:
CAL
FIG
PIST
GOPC1
dJ94G16.2
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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PDZ结构域的 Golgi 蛋白。PDZ结构域是球形的,含有它们的蛋白质通过C-末端附近的短基序与其他蛋白质结合。缺乏该正链蛋白质的小鼠具有球形精子症并不育。已发现该基因有多种转录变异体,编码不同的异构体。[RefSeq,2011年12月提供]
Related ID:
NCBI:57120
ENSEMBL:ENSG00000047932
HGNC:17643
UNIPROT:Q9HD26
OMIM:606845
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57120
2
9
42243 bp
50.52
17
1
6
17
GOPC Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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