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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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人类
PDGFRB - Platelet Derived Growth Factor Receptor Beta
Alias:
IMF1
KOGS
IBGC4
JTK12
PDGFR
PENTT
CD140B
PDGFR1
PDGFR-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种细胞表面酪氨酸激酶受体,用于血小板来源的生长因子家族的成员。这些生长因子是间充质来源的细胞的促细胞分裂剂。与受体单体结合的生长因子的身份决定了功能性受体是同二聚体(PDGFB或PDGFD)还是异二聚体(PDGFA和PDGFB)。这个基因对心血管系统的正常发育是必不可少的,并有助于重组肌动蛋白细胞骨架。这个基因在染色体5上由粒细胞-巨噬细胞集落刺激因子和巨噬细胞集落刺激因子受体的基因两侧;所有这三个基因可能与5-q综合征有关。染色体5和12之间的易位,将这个基因与ETV6基因融合,导致慢性骨髓增殖性嗜酸性白细胞过多症。[RefSeq,2017年8月提供]
Related ID:
NCBI:5159
ENSEMBL:ENSG00000113721
HGNC:8804
UNIPROT:P09619
OMIM:173410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5159
3
23
42007 bp
123.97
514
11
33
59
PDGFRB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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