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中文人类
COL17A1 - Collagen Type XVII Alpha 1 Chain
Alias:
ERED
JEB4
BP180
BPA-2
BPAG2
LAD-1
BA16H23.2
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这个基因编码XVII型胶原蛋白的α链。与大多数胶原蛋白不同，XVII型胶原蛋白是一种跨膜蛋白。XVII型胶原蛋白是毛囊膜复合物的一种结构成分，该复合物位于真皮-表皮基底膜区域，负责将角化细胞粘附到下面的膜上。这个基因的突变与泛发性良性和连接性大疱性表皮松解症有关。存在两种同型三聚的XVII型胶原蛋白形式。全长形式是跨膜蛋白。可溶性形式，被称为上皮细胞外域或LAD-1，是通过全长形式的蛋白水解加工产生的。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL17A1 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
