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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
NELFA - Negative Elongation Factor Complex Member A
Alias:
WHSC2
NELF-A
P/OKcl.15
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因在胎儿组织中的表达水平高于成人组织。它编码一个与小鼠蛋白质有93%序列同一性的蛋白质。Wolf-Hirschhorn综合征(WHS)是一种与4号染色体短臂远端的半合删除有关的畸形综合征。该基因被映射到165kb的WHS关键区域,可能参与WHS或Pitt-Rogers-Danks综合征的表型。发现的编码蛋白质能够与HLA-A2限制性反应并具有肿瘤特异性的细胞毒性T淋巴细胞,这表明在大量癌症患者的特异性免疫治疗中可以作为靶点。该蛋白质已被证明是参与RNA聚合酶II转录延长调节的NELF(负向延长因子)蛋白质复合体的成员。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7469
ENSEMBL:ENSG00000185049
HGNC:12768
UNIPROT:Q9H3P2
OMIM:606026
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7469
2
11
26252 bp
57.28
63
1
6
20
NELFA 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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Status
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