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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
FBXL13 - F-box And Leucine Rich Repeat Protein 13
Alias:
DRC6
Fbl13
CFAP169
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
F-box蛋白家族成员,如FBXL13,其特征是一个约40个氨基酸的F-box基序。SCF复合体由SKP1(MIM 601434)、cullin(参见CUL1;MIM 603134)和F-box蛋白组成,作为蛋白质泛素连接酶发挥作用。F-box蛋白通过F盒与SKP1相互作用,并通过其他蛋白质相互作用结构域与泛素化靶标相互作用(Jin等,2004年[PubMed 15520277])。[由OMIM于2008年3月提供]
Related ID:
NCBI:222235
ENSEMBL:ENSG00000161040
HGNC:21658
UNIPROT:Q8NEE6
OMIM:609080
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
222235
19
21
263608 bp
83.92
47
--
6
6
FBXL13 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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