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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
KIF21A - Kinesin Family Member 21A
Alias:
FEOM1
CFEOM1
FEOM3A
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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Kinesin-like motor proteins的KIF4亚家族成员。编码的蛋白质特征是N-末端马达域、螺旋-螺旋杆状结构域和C-末端WD-40重复结构域。这个蛋白质可能参与微管依赖的运输。这个基因的突变是导致先天性眼外肌纤维化-1的原因。交替剪接导致多个转录变异体。[RefSeq,2010年3月提供]
Related ID:
NCBI:55605
ENSEMBL:ENSG00000139116
HGNC:19349
UNIPROT:Q7Z4S6
OMIM:608283
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55605
33
38
149893 bp
187.18
215
3
7
23
KIF21A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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