Log In|Sign Up
中文人类
COL9A1 - Collagen Type IX Alpha 1 Chain
Alias:
MED
EDM6
STL4
DJ149L1.1.2
Favorite
这个基因编码IX型胶原的三条α链之一，它是透明软骨的次要（5-20%）胶原成分。IX型胶原通常存在于含有II型胶原的组织中，II型胶原是一种原纤维胶原。在敲除小鼠的研究中表明，α1链的合成对于组装IX型胶原分子（一种异源三聚分子）是必需的，缺乏IX型胶原与早发性骨关节炎有关。这个基因的突变与人类骨关节炎、多种骨骺发育异常6（一种软骨发育不良形式）和Stickler综合症有关，Stickler综合症是一种以眼科、口面部、关节和听力缺陷为特征的疾病。已经在这个基因中鉴定出两种编码不同异构体的转录变异体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL9A1 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
