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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
LAMB3 - Laminin Subunit Beta 3
Alias:
AI1A
LAM5
JEB1A
JEB1B
LAMNB1
BM600-125KDA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的产物是一种属于基底膜蛋白家族的胶原蛋白。这种蛋白质是胶原蛋白的β亚基,与α和γ亚基一起形成胶原蛋白-5。这个基因的突变导致表皮松解性牛皮癣交界性Herlitz型和全身性良性表皮松解性牛皮癣,其特征是皮肤起泡。已经发现这个基因有多个可变剪接转录本,它们编码相同的蛋白质。[RefSeq,2008年7月提供]
Related ID:
NCBI:3914
ENSEMBL:ENSG00000196878
HGNC:6490
UNIPROT:Q13751
OMIM:150310
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3914
6
23
37556 bp
129.57
993
8
6
15
LAMB3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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