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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
CKAP2L - Cytoskeleton Associated Protein 2 Like
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质被认为是一种有丝分裂纺锤体蛋白,对神经干细胞或前体细胞很重要。这个基因的突变与纺锤体组织缺陷有关,包括有丝分裂纺锤体缺陷、滞后染色体和染色质桥。有证据表明,这个基因的突变与菲利普综合症有关,其特征是生长缺陷、小头畸形、智力障碍、面部特征缺陷和并指。这个基因在20号染色体上有一个假基因。可变剪接导致多种转录变体。[由RefSeq提供,2015年1月]
Related ID:
NCBI:150468
ENSEMBL:ENSG00000169607
HGNC:26877
UNIPROT:Q8IYA6
OMIM:616174
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
150468
3
9
28261 bp
83.59
153
1
3
9
CKAP2L 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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