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中文人类
LAMA3 - Laminin Subunit Alpha 3
Alias:
E170
LOCS
BM600
JEB2A
JEB2B
JEB2C
LAMNA
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这个基因编码的蛋白质属于层粘连蛋白家族分泌分子。层粘连蛋白是由α、β和γ亚基组成的三聚分子，通过螺旋-螺旋结构域组装而成。层粘连蛋白对基底膜的形成和功能至关重要，并在调节细胞迁移和机械信号传导中具有额外功能。这个基因编码一个α亚基，并对包括角质细胞生长因子、表皮生长因子和胰岛素样生长因子在内的几种上皮-间质调节因子作出反应。已经发现这个基因的突变是导致Herlitz型结际性大疱性表皮松解和喉-指甲皮肤综合征的原因。可变剪接和可选的启动子使用导致多个转录变异体。[RefSeq,2014年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LAMA3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
