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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
F13A1 - Coagulation Factor XIII A Chain
Alias:
F13A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码凝血因子XIII的A亚基。凝血因子XIII是血液凝固级联中最后一个成为活化的酶原。血浆因子XIII是一个由2个A亚基和2个B亚基组成的异四聚体。A亚基具有催化功能,而B亚基不具有酶活性,可能作为血浆载体分子。血小板因子XIII只由与血浆来源相同的2个A亚基组成。在凝血酶切割激活肽并在存在钙离子的条件下,血浆因子XIII分离其B亚基,产生与血小板因子XIII相同的活性酶,即因子XIIIa。这种酶作为转谷氨酰胺酶,催化纤维蛋白分子之间形成γ-谷氨酰-ε-赖氨酸交联,从而稳定纤维蛋白凝块。它还将α-2-纤溶酶抑制剂或纤连蛋白交联到纤维蛋白的α链上。因子XIII缺陷分为两类:I型缺陷,特点是A和B亚基缺乏;II型缺陷,特点是仅A亚基缺乏。这些缺陷可能导致终身出血倾向、伤口愈合缺陷和习惯性流产。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2162
ENSEMBL:ENSG00000124491
HGNC:3531
UNIPROT:P00488
OMIM:134570
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2162
1
15
176579 bp
83.27
203
5
9
24
F13A1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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