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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
GDAP1L1 - Ganglioside Induced Differentiation Associated Protein 1 Like 1
Alias:
dJ881L22.1
dJ995J12.1.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
GD3合成酶在转染到小鼠神经母细胞瘤细胞系Neuro2a中时,会导致细胞分化和神经突触生长。分化后,几个基因的表达上调,包括一个编码称为神经节苷脂诱导的分化相关蛋白1(Gdap1)的蛋白质的基因。在人类中发现了类似的基因,而人类基因的突变与Charcot-Marie-Tooth型4A疾病有关。这个基因编码的蛋白质与人类GDAP1蛋白质在序列上相似。已经发现这个基因有几个编码不同异型的转录变异体,以及一个非编码的转录变异体。[RefSeq,2012年2月提供]
Related ID:
NCBI:78997
ENSEMBL:ENSG00000124194
HGNC:4213
UNIPROT:Q96MZ0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
78997
5
6
33849 bp
41.97
18
--
2
6
GDAP1L1 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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References Literature
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