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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
PDGFB - Platelet Derived Growth Factor Subunit B
Alias:
SIS
SSV
IBGC5
PDGF2
c-sis
PDGF-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质家族成员,该家族包括血小板来源的生长因子(PDGF)和血管内皮生长因子(VEGF)。编码的前原蛋白在蛋白水解过程中被加工,生成血小板来源的生长因子B亚基,它可以同源二聚化,或者与相关的血小板来源的生长因子A亚基异源二聚化。这些蛋白质结合并激活血小板来源的生长因子受体酪氨酸激酶,在广泛的发育过程中发挥作用。这个基因的突变与脑膜瘤有关。在染色体22和17之间,在这个基因和胶原类型1α1基因所在的位置,相互易位与皮肤纤维肉瘤伴隆起(一种罕见的皮肤肿瘤)有关。可变剪接导致多个转录变异体。[RefSeq,2015年10月提供]
Related ID:
NCBI:5155
ENSEMBL:ENSG00000100311
HGNC:8800
UNIPROT:P01127
OMIM:190040
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
5155
4
7
21624 bp
27.28
129
4
6
26
PDGFB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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