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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TNXB - Tenascin XB
Alias:
XB
TNX
XBS
EDS3
HXBL
TENX
TN-X
VUR8
TNXB1
TNXB2
TNXBS
EDSCLL
EDSCLL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个十型胶原家族细胞外基质糖蛋白成员。十型胶原具有抗粘附作用,与纤维连接蛋白不同,纤维连接蛋白具有粘附作用。这种蛋白质被认为在伤口愈合过程中的基质成熟中起作用,其缺乏与结缔组织疾病埃勒斯-丹洛斯综合征有关。这个基因位于染色体6上的主要组织相容性复合体(MHC)III类区域。这是这个簇中已经复制的四个基因之一。这个基因的复制副本是不完全的,是一个被转录但不编码蛋白质的假基因。这个基因的结构不寻常,因为它在5'和3'端分别重叠CREBL1和CYP21A2基因。已经发现这个基因的多个转录变异体编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7148
ENSEMBL:ENSG00000168477
HGNC:11976
UNIPROT:P22105
OMIM:600985
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7148
3
44
68186 bp
458.39
2143
6
7
16
TNXB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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