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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
FBH1 - F-box DNA Helicase 1
Alias:
Fbx18
hFBH1
FBXO18
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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F-box蛋白家族的一员,其特征是一个大约40个氨基酸的基序,即F-box。F-box蛋白构成了泛蛋白酶体复合物(SKP1-cullin-F-box)的四个亚基之一,该复合物在磷酸化依赖的泛素化中发挥作用。F-box蛋白分为三类:包含WD-40结构的Fbws,包含富亮氨酸重复序列的Fbls,以及包含不同蛋白质-蛋白质相互作用模块或无明显识别基序的Fbxs。这个基因编码的蛋白质属于Fbx类。它包含一个F-box基序和七个保守的螺旋酶基序,并具有DNA依赖的ATP酶活性和DNA解旋活性。已经发现了这个基因的替代剪接转录变体,它们编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:84893
ENSEMBL:ENSG00000134452
HGNC:13620
UNIPROT:Q8NFZ0
OMIM:607222
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84893
25
21
48022 bp
117.69
18
--
5
16
FBH1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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