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中文人类
COL7A1 - Collagen Type VII Alpha 1 Chain
Alias:
EBD1
EBR1
EBDCT
NDNC8
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这个基因编码VII型胶原的α链。VII型胶原原纤维由三个相同的α胶原链组成，仅限于鳞状上皮细胞的基底层。它作为外部上皮和下方基质之间的锚定原纤维发挥作用。这个基因的突变与所有形式的牛癣性表皮松解症有关。然而，在没有突变的情况下，这种疾病的获得性形式可能是由于针对VII型胶原的自身免疫反应引起的。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL7A1 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
