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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
MYT1L - Myelin Transcription Factor 1 Like
Alias:
NZF1
MRD39
myT1-L
ZC2H2C2
ZC2HC4B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码锌指转录因子超家族的一员,迄今为止,仅在神经组织中发现其表达。编码的蛋白质属于一种新型的半胱氨酸-半胱氨酸-组氨酸-半胱氨酸锌指蛋白质,在发育中的哺乳动物中枢神经系统中发挥作用。将这个基因与基本螺旋-环-螺旋转录因子NeuroD1和转录因子POU类3同源盒2以及achain-scute家族基本螺旋-环-螺旋转录因子1强制表达,可以将胎儿和出生后的人类成纤维细胞转化为诱导的神经细胞,这些细胞能够产生动作电位。这个基因的突变与常染色体显性认知障碍和自闭症谱系障碍有关。可变剪接导致多个变异。[由RefSeq,2017年7月提供]
Related ID:
NCBI:23040
ENSEMBL:ENSG00000186487
HGNC:7623
UNIPROT:Q9UL68
OMIM:613084
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23040
33
25
542163 bp
133.04
403
1
6
6
MYT1L Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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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Link
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References Literature
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