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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
小鼠
Fgfr1 - fibroblast growth factor receptor 1
Alias:
FLG
Fr1
MFR
Eask
Hspy
Flt-2
c-fgr
FGFR-I
Fgfr-1
bFGF-R-1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活SH2结构域结合活性;成纤维细胞生长因子结合活性;成纤维细胞生长因子激活的受体活性。参与前脑发育;RNA聚合酶II转录的负调控;细胞周期的正调控。在几个过程的上游或内部发挥作用,包括动物器官发育;细胞群增殖的正调控;动物器官形态发生的调控。位于质膜上。在几个结构中表达,包括消化系统;中枢神经系统;胚胎间充质;生殖泌尿系统;感觉器官。用于研究Pfeiffer综合征和中耳炎。这种基因的人类同源物涉及几种疾病,包括Jackson-Weiss综合征;骨病(多种);唇裂;血液肿瘤(多种);促性腺激素缺乏性性欲减退(多种)。与人类FGFR1(成纤维细胞生长因子受体1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14182
ENSEMBL:ENSMUSG00000031565
UNIPROT:P16092
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14182
3
18
59012 bp
91.98
50
30
Fgfr1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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