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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
SFTPC - Surfactant Protein C
Alias:
SP5
SP-C
PSP-C
SFTP2
SMDP2
BRICD6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肺相关表面活性蛋白C(SPC),这是一种非常疏水的表面活性蛋白,对出生后肺功能和体内平衡至关重要。肺表面活性剂是一种表面活性脂蛋白复合物,由90%的脂质和10%的蛋白质组成,包括血浆蛋白和载脂蛋白SPA、SPB、SPC和SPD。表面活性剂由肺部肺泡细胞分泌,通过降低覆盖肺部的液体的表面张力,维持肺部组织的稳定性。已经发现了这个基因中的多个突变,导致2型肺表面活性剂代谢功能障碍,也称为由于表面活性蛋白C缺乏引起的肺泡蛋白沉积症,与老年婴儿、儿童和成人的间质性肺病有关。已经发现了编码不同蛋白质异型的可变剪接转录变异体。[RefSeq,2010年2月提供]
Related ID:
NCBI:6440
ENSEMBL:ENSG00000168484
HGNC:10802
UNIPROT:P11686
OMIM:178620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6440
15
6
7097 bp
21.01
135
5
20
18
SFTPC Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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