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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
GBF1 - Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 1
Alias:
CMT2GG
CMTDI2
CMTDIA
ARF1GEF
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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Sec7结构域家族成员。编码的蛋白质是一种调控GDP到GTP交换的蛋白质,从而调节蛋白质招募到膜上。该编码蛋白质定位在高尔基体上,通过激活ADP核糖化因子1在囊泡运输中发挥作用。该编码蛋白质也被鉴定为病毒复制的重要宿主因子。已观察到这个基因的多个转录变异体。[RefSeq提供,2010年12月]
Related ID:
NCBI:8729
ENSEMBL:ENSG00000107862
HGNC:4181
UNIPROT:Q92538
OMIM:603698
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8729
33
40
152254 bp
206.57
108
3
3
42
GBF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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