F13A1 (coagulation factor XIII A chain)
- symbol:
- F13A1
- locus group:
- protein-coding gene
- location:
- 6p25.1
- gene_family:
- Transglutaminases
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 2162
- ensembl gene id:
- ENSG00000124491
- ucsc gene id:
- uc003mwv.4
- refseq accession:
- NM_000129
- hgnc_id:
- HGNC:3531
- approved reserved:
- 2001-06-22
F13A1基因编码凝血因子XIII的A亚基，属于凝血因子基因家族。该基因家族主要参与血液凝固过程，其成员通常以酶原形式存在并在凝血级联反应中被激活。F13A1在肝脏和巨核细胞中表达，其产物凝血因子XIII A亚基与B亚基结合形成转谷氨酰胺酶，在凝血最后阶段发挥关键作用：催化纤维蛋白交联形成稳定凝块，增强血凝块对纤溶的抵抗力，并促进伤口愈合。该酶还参与细胞外基质重塑、血管生成和胚胎发育等过程。F13A1突变可导致遗传性因子XIII缺乏症，表现为严重出血倾向、伤口愈合延迟和自发性流产。杂合突变携带者通常无症状，纯合或复合杂合突变患者出血风险显著增加。该基因与血栓性疾病、阿尔茨海默病和瘢痕疙瘩等病理过程相关。过表达F13A1可能增强血栓形成倾向，促进纤维化疾病发展；而表达降低则导致出血风险增加，影响组织修复。F13A1与F13B基因共同构成因子XIII系统，两者表达需保持平衡，A亚基缺乏会显著影响酶活性。该基因多态性（如Val34Leu）可改变酶活性，影响血栓性疾病风险。在基因治疗方面，补充F13A1可用于治疗遗传性因子XIII缺乏症。
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
该基因编码凝血因子XIII的A亚单位。凝血因子XIII是最后酶原在血液凝固级联被活化。血浆因子XIII是2α亚基和2 B亚单位组成的异四聚体。在A亚基具有催化功能，与B亚基不具有酶活性，可作为血浆载体分子。血小板因子XIII只包括2所述的亚基，这是相同的等离子体源的。经凝血酶和钙离子的存在下激活肽的切割，等离子体XIII因子解离在其B亚基，并产生相同的活性酶，XIIIa因子，如血小板因子XIII。这种酶作为转谷氨酰胺酶来催化纤维蛋白分子之间γ-谷氨酰基厄普西隆赖氨酸交联的??形成，从而稳定的纤维蛋白凝块。它还交联α-2-纤维蛋白溶酶抑制剂，或纤连蛋白，纤维蛋白的??α链。因子XIII缺乏症分为两类：I型缺乏症，其特征在于缺乏两个A和B亚单位的;和II型缺乏症，其特征在于缺乏单独A亚基的。这些缺陷可能导致终身出血倾向，有缺陷的伤口愈合，并习惯性流产。 [由RefSeq的，2008年7月提供]
基因本体信息
F13A1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
F13A1基因的本体（GO）信息：
| 名称 |
|---|
| 4610 Complement and coagulation cascades [PATH:hsa04610] |
| 名称 |
|---|
| Common Pathway of Fibrin Clot Formation |
| Formation of Fibrin Clot (Clotting Cascade) |
| Hemostasis |
| Platelet activation, signaling and aggregation |
| Platelet degranulation |
| Response to elevated platelet cytosolic Ca2+ |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Factor Xiii, A Subunit, Deficiency Of | 0.44 | 2 | 15 | CLINVAR_CTD_human_MGD_UNIPROT |
| Myocardial Infarction | 0.15529617 | 16 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Venous Thrombosis | 0.130182764 | 5 | 0 | CTD_human_GAD_LHGDN |
| Factor XIII Deficiency | 0.12680591 | 7 | 0 | BeFree_CTD_human_LHGDN |
| Dermatitis, Allergic Contact | 0.12 | 1 | 0 | CTD_human |
| Cerebrovascular accident | 0.02911902 | 11 | 0 | GAD_LHGDN |
| Thrombosis | 0.016926542 | 7 | 0 | GAD_LHGDN |
| Brain Ischemia | 0.016569224 | 7 | 0 | GAD |
| Coronary Artery Disease | 0.013178557 | 5 | 1 | BeFree_GAD_LHGDN |
| Cardiovascular Diseases | 0.01183516 | 5 | 0 | GAD |
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