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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
FCN3 - Ficolin 3
Alias:
FCNH
HAKA1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
Ficolins 是一组由胶原样域和纤维蛋白原样域组成的蛋白质。在人血清中,有两种类型的 Ficolins,两者都具有凝集素活性。该基因编码的蛋白质是一种热不稳定型β-2-巨球蛋白,存在于所有人类血清中,是 ficolin/opsonin p35 凝集素家族的成员。这种蛋白质最初是根据其与系统性红斑狼疮患者血清的反应性而识别出来的,已被证明具有钙独立的凝集素活性。该蛋白质可以与MASPs和sMAP结合激活补体途径,从而通过激活凝集素途径帮助宿主防御。在这个位点发生替代剪接,已经识别出两种编码不同异构体的变体。[由RefSeq提供,2008年7月]
Related ID:
NCBI:8547
ENSEMBL:ENSG00000142748
HGNC:3625
UNIPROT:O75636
OMIM:604973
Basic Information
NCBI
Transcripts
Exons
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MW (kDa)
Mutations
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Reference
8547
2
8
5715 bp
32.90
27
1
--
14
FCN3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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