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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
Fgfr3 - fibroblast growth factor receptor 3
Alias:
FR3
Mfr3
sam3
CD333
Flg-2
HBGFR
Fgfr-3
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码成纤维细胞生长因子受体家族的一员。这个家族的成员是高度保守的蛋白质,它们的配体亲和性和组织分布彼此不同。一个典型的蛋白质由一个包含三个免疫球蛋白样结构域的细胞外区域、一个单一的疏水跨膜区段和一个细胞质中的酪氨酸激酶结构域组成。蛋白质的细胞外部分与成纤维细胞生长因子相互作用,启动一系列下游信号,最终影响细胞有丝分裂和分化。这个家族成员结合酸性和碱性成纤维细胞生长激素,并在骨发育和维护中发挥作用。这个基因的突变可能与颅骨早合和多种类型的骨骼发育异常有关。这个基因的一个假基因位于染色体1上。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[由RefSeq,2011年4月提供]
Related ID:
NCBI:14184
ENSEMBL:ENSMUSG00000054252
UNIPROT:Q61851
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14184
7
18
15345 bp
Unknown
30
4
Fgfr3 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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