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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
LAMA4 - Laminin Subunit Alpha 4
Alias:
LAMA3
CMD1JJ
LAMA4*-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
层粘连蛋白,一种细胞外基质糖蛋白家族,是基底膜的主要非胶原蛋白成分。它们与各种生物过程有关,包括细胞粘附、分化、迁移、信号传导、神经突起生长和转移。层粘连蛋白由3个不同的链组成:层粘连蛋白α、β和γ(分别前称为A、B1和B2),它们形成一个由3个短臂和1个长臂组成的三叉结构。每个层粘连蛋白链都是一个由不同基因编码的多结构域蛋白质。每个链的多个异构体结合形成不同的三聚体层粘连蛋白异构体,这些异构体按照其发现顺序用阿拉伯数字表示,即alpha1beta1gamma1三聚体是层粘连蛋白1。不同链和三聚体分子的生物学功能大多未知,但一些链已被证明在组织分布方面有所不同,推测这反映了它们在体内的不同功能。这个基因编码层粘连蛋白α4异构体。α4的结构域结构与α3相似,两者都类似于α1和α2的截断版本,因为在N端约1200个残基(域IV、V和VI)丢失。层粘连蛋白α4包含C端的G结构域,这是所有α链区别于β和γ链的特征。成人和胎儿组织的RNA分析揭示了表达的发育调控,但层粘连蛋白α4的确切功能尚不清楚。文献中描述了组织特异性利用替代polyA信号。选择性剪接导致编码不同异构体的多种转录变异体。[RefSeq,2011年8月提供]
Related ID:
NCBI:3910
ENSEMBL:ENSG00000112769
HGNC:6484
UNIPROT:Q16363
OMIM:600133
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
3910
11
39
147055 bp
202.52
1585
2
5
12
LAMA4 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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