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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
KLHL13 - Kelch Like Family Member 13
Alias:
BKLHD2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含BTB和kelch结构域的蛋白质,属于蛋白质的kelch重复结构域含有超家族。编码的蛋白质作为接头蛋白质,与Cullin 3和其他蛋白质复合,形成基于Cullin 3的E3泛素-蛋白质连接酶复合物。这个复合物对于正常的染色体分离和胞质分裂的完成是必要的。交替剪接导致多个转录变异体。[RefSeq,2010年3月提供]
Related ID:
NCBI:90293
ENSEMBL:ENSG00000003096
HGNC:22931
UNIPROT:Q9P2N7
OMIM:300655
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
90293
9
8
219528 bp
73.87
17
--
3
9
KLHL13 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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