【佳学基因检测】神经科基因分子诊断项目招标问题中关F13B问题的答案

基因检测的序列名称：

F13B

人体基因序列变化与疾病表征数据库中的基因代码：

2165

人体基因序列数据库中国际交流名称全称

coagulation factor XIII B chain

中国数据库中基因全称：

凝血因子XIII B链

基因检测报告英文版基因简介

This gene encodes coagulation factor XIII B 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 a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the 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. 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]

基因突变所影响的基因信息

该基因编码凝血因子XIII B亚基。凝血因子XIII是在凝血级联反应中贼后被激活的酶原。血浆因子XIII是由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，可以用作血浆载体分子。血小板因子XIII仅包含2 A亚单位，与血浆来源的亚单位相同。在通过凝血酶裂解活化肽并在钙离子存在下活化后，血浆因子IIIⅢ解离其B亚基并产生与血小板因子XⅢ相同的活性酶factorⅢa。该酶充当转谷氨酰胺酶，催化血纤蛋白分子之间形成γ-谷氨酰-ε-赖氨酸交联，从而稳定血纤蛋白凝块。XIII因子缺乏ು୔

国际国内该碱基基因序列的其他英语文字母简称：

FXIIIB

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第1号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：197007877；结束位置坐标为：197036568。该基因序列在GRCh38版本中的起始位置坐标为：197038741；结束位置坐标为：197067267。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。