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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
FBXO22 - F-box Protein 22
Alias:
FBX22
FISTC1
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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蛋白构成了泛蛋白连接酶复合物(称为SCFs,SKP1-cullin-F-box)的四个亚基之一,该复合物在磷酸化依赖的泛蛋白酶作用中发挥作用。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Fbxs类,并被肿瘤蛋白p53作为转录靶标,被认为参与响应p53诱导的特定蛋白质的降解。可变剪接导致多个转录变异体。[RefSeq,2010年12月提供]
Related ID:
NCBI:26263
ENSEMBL:ENSG00000167196
HGNC:13593
UNIPROT:Q8NEZ5
OMIM:609096
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26263
3
7
38634 bp
44.51
13
--
5
11
FBXO22 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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