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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
FGFRL1 - Fibroblast Growth Factor Receptor Like 1
Alias:
FHFR
FGFR5
FGFR-5
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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成纤维细胞生长因子受体(FGFR)家族的成员,其氨基酸序列在成员之间以及在进化过程中高度保守。FGFR家族成员在它们的配体亲和性和组织分布方面彼此不同。一个完整代表蛋白质将包括一个细胞外区域,由三个免疫球蛋白样结构域组成,一个单一的疏水跨膜区段和一个细胞质酪氨酸激酶结构域。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,最终影响细胞增殖和分化。与其他家族成员相比,这个基因产品的显著特点是它缺乏细胞质酪氨酸激酶结构域。结果是形成一个可以与其他家族成员相互作用并潜在抑制信号传导的跨膜受体。已经发现这个基因的多个可变剪接转录变异体,编码相同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:53834
ENSEMBL:ENSG00000127418
HGNC:3693
UNIPROT:Q8N441
OMIM:605830
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
53834
5
7
16687 bp
54.54
234
1
7
8
FGFRL1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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