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中文人类
COL11A1 - Collagen Type XI Alpha 1 Chain
Alias:
STL2
COLL6
CO11A1
DFNA37
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这个基因编码XI型胶原的两个alpha链之一，一种次要的纤维胶原。XI型胶原是一个异源三聚体，但第三个alpha链是一个翻译后修饰的alpha 1型II链。这个基因的突变与II型Stickler综合征和Marshall综合征有关。这个基因中的一个单核苷酸多态性也与腰椎间盘突出的易感性有关。已经在这个基因中鉴定出多个转录变异体。[由RefSeq，2009年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL11A1 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
