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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
MPL - MPL Proto-oncogene, Thrombopoietin Receptor
Alias:
MPLV
TPOR
C-MPL
CD110
THPOR
THCYT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
1990年,从能够使不同血统的骨髓造血细胞永生化的小鼠骨髓增殖性白血病病毒中鉴定出一个原癌基因,v-mpl。1992年,人类同源基因,c-mpl,被克隆。序列数据表明,c-mpl编码一个与造血受体超家族成员同源的蛋白质。c-mpl反义寡脱氧核苷酸的存在抑制了巨核细胞集落的形成。c-mpl的配体,血小板生成素,于1994年被克隆。血小板生成素被证明是巨核细胞增殖和血小板形成的主要调节因子。c-mpl基因编码的CD110蛋白是一个635个氨基酸的跨膜区域,有两个外周细胞因子受体域和两个内源性细胞因子受体盒模式。TPO-R缺陷小鼠严重血小板减少,强调了CD110和血小板生成素在巨核细胞和血小板形成中的重要作用。血小板生成素结合CD110后,形成二聚体,JAK家族的非受体酪氨酸激酶,STAT家族,MAPK家族,适配蛋白Shc和受体本身均被酪氨酸磷酸化。[由RefSeq提供,2008年7月]
Related ID:
NCBI:4352
ENSEMBL:ENSG00000117400
HGNC:7217
UNIPROT:P40238
OMIM:159530
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
4352
1
12
16649 bp
71.25
544
7
9
14
MPL Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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