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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
CEP112 - Centrosomal Protein 112
Alias:
CCDC46
MACOCO
SPGF44
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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螺旋-螺旋结构域的蛋白质,属于细胞分裂控制蛋白42效应子蛋白家族。在神经元中,它定位在树突的细胞质中,并在核中富集,在那里它与RNA聚合酶III转录抑制子Maf1相互作用,以调节γ-氨基丁酸A受体表面表达。此外,该蛋白质已被鉴定为人中心体的组成部分。可选的剪接导致多个转录变异体。[由RefSeq,2014年11月提供]
Related ID:
NCBI:201134
ENSEMBL:ENSG00000154240
HGNC:28514
UNIPROT:Q8N8E3
OMIM:618980
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
201134
20
27
556597 bp
112.75
50
1
3
5
CEP112 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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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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