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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
FBXO44 - F-box Protein 44
Alias:
FBG3
FBX30
FBX6A
Fbx44
Fbxo6a
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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框蛋白家族的一个成员,该家族的特点是大约40个氨基酸的motif,即F框。F框蛋白是泛素蛋白连接酶复合物SCF(SKP1-cullin-F框)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框蛋白分为三类:包含WD-40域的Fbws,包含亮氨酸重复的Fbls,以及包含不同蛋白质-蛋白质相互作用模块或无明显motif的Fbxs。这个基因编码的蛋白质属于Fbxs类。它也是NFB42(神经F框42 kDa)家族的一员,类似于F框蛋白2和F框蛋白6。这个基因已经发现了几种不同的剪接变体,编码两个不同的等位基因。[由RefSeq提供,2015年2月]
Related ID:
NCBI:93611
ENSEMBL:ENSG00000132879
HGNC:24847
UNIPROT:Q9H4M3
OMIM:609111
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
93611
22
6
8921 bp
29.75
14
--
4
6
FBXO44 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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