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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
SCG5 - Secretogranin V
Alias:
7B2
SgV
P7B2
SGNE1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种分泌型分子伴侣蛋白,可以防止其他分泌型蛋白质的聚集,包括与神经退行性和代谢疾病相关的蛋白质。这个编码的蛋白质可能最为人所知的是它在前激素转换酶PC2(基因ID:5126)的转运和激活中的作用。已证实,这个基因编码的蛋白质的磷酸化对其分子伴侣功能具有抑制作用。这个基因还产生了ARHGAP11A-SCG5读穿转录本和ARHGAP11A-SCG5蛋白质。[由RefSeq,2019年2月提供]
Related ID:
NCBI:6447
ENSEMBL:ENSG00000166922
HGNC:10816
UNIPROT:P05408
OMIM:173120
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6447
4
6
55383 bp
23.73
38
--
3
7
SCG5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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