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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
CORO7 - Coronin 7
Alias:
CRN7
POD1
0610011B16Rik
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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coronin蛋白家族的成员。然而,与其他coronin蛋白不同,它不是一个肌动蛋白结合蛋白,而是作为一个F-肌动蛋白调节物,指导Golgi向前端内体运输。编码的蛋白质具有两个串联的WD-40结构域重复序列,并定位在跨高尔基网络。该蛋白质通过一个E3连接酶复合物经历K33链接的多泛素化。被认为在维持高尔基器形态方面起着基本作用。替代剪接导致多个转录本变异;其中一些与相邻基因形成读穿转录本。[由RefSeq提供,2016年12月]
Related ID:
NCBI:79585
ENSEMBL:ENSG00000262246
HGNC:26161
UNIPROT:P57737
OMIM:611668
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
79585
4
28
62055 bp
100.61
56
--
3
8
CORO7 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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