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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
FOXP2 - Forkhead Box P2
Alias:
SPCH1
CAGH44
TNRC10
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个叉头/翼状螺旋(FOX)家族转录因子成员。它在胎儿和成年大脑以及几个其他器官如肺和肠道中表达。蛋白质产物包含一个FOX DNA结合结构域和一个大型多聚谷氨酰胺区带,并且是一个进化保守的转录因子,可以直接结合人类基因组中大约300到400个基因启动子,以调节各种基因的表达。这个基因在胚胎发生过程中对大脑中言语和语言区域的正常发育是必需的,并且可能涉及最终影响语言发展的各种生物途径和级联。这个基因的突变导致言语语言障碍1(SPCH1),也称为常染色体显性言语和语言障碍伴口面部运动障碍。在这个基因中已经发现了多个编码不同异型体的可变替代转录本。[由RefSeq,2010年2月提供]
Related ID:
NCBI:93986
ENSEMBL:ENSG00000128573
HGNC:13875
UNIPROT:O15409
OMIM:605317
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
93986
6
17
607439 bp
79.92
312
2
15
15
FOXP2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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