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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
SEC24B - SEC24 Homolog B, COPII Coat Complex Component
Alias:
SEC24
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是SEC23/SEC24家族的SEC24亚家族成员,参与囊泡运输。编码的蛋白质被认为是COPII囊泡的货载结合成分,并被认为参与将分泌蛋白质从内质网运输到高尔基体。这个基因的突变与神经管缺陷有关,被认为是与VANGL平面细胞极性蛋白2(VANGL2)基因编码的蛋白质相互作用破坏的结果。可变剪接产生多种转录变异体,编码不同的异构体。[RefSeq,2015年12月提供]
Related ID:
NCBI:10427
ENSEMBL:ENSG00000138802
HGNC:10704
UNIPROT:O95487
OMIM:607184
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
10427
19
24
107082 bp
137.42
53
--
6
17
SEC24B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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