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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
KIFBP - Kinesin Family Binding Protein
Alias:
KBP
TTC20
KIF1BP
KIAA1279
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个被两个四三肽重复序列特征的动蛋白家族成员1结合蛋白。编码的蛋白质定位在线粒体上,可能参与调节线粒体的运输。这个基因的突变与Goldberg-Shprintzen巨结肠综合症有关。[RefSeq,2010年3月提供]
Related ID:
NCBI:26128
ENSEMBL:ENSG00000198954
HGNC:23419
UNIPROT:Q96EK5
OMIM:609367
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26128
2
7
28180 bp
71.81
152
1
4
12
KIFBP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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