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中文人类
COL4A6 - Collagen Type IV Alpha 6 Chain
Alias:
DFNX6
DELXq22.3
CXDELq22.3
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这个基因编码VI型胶原蛋白的六个亚基之一，基底膜的主要结构成分。与其他IV型胶原蛋白基因家族的成员一样，这个基因以头对头的构象与其他IV型胶原蛋白基因，α5型IV胶原蛋白组织在一起，使得基因对共享一个共同的启动子。α5基因中的缺失延伸到α6基因中，导致在α5基因缺失引起的X连锁Alport综合征伴随弥漫性平滑肌瘤形成。可变剪接导致编码不同异型体的多种转录变异体。[RefSeq,2013年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL4A6 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
