【佳学基因检测】质谱基因评估分析CALR基因存在基因突变该怎么理解？

基因检测的序列名称：

CALR

人体基因序列变化与疾病表征数据库中的基因代码：

811

人体基因序列数据库中国际交流名称全称

calreticulin

中国数据库中基因全称：

钙网蛋白

基因检测报告英文版基因简介

Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

钙网蛋白是一种多功能蛋白，在内质网腔中作为主要的Ca（2+）结合（存储）蛋白。它还在细胞核中发现，表明它可能在转录调节中起作用。钙网蛋白与合成肽KLGFFKR结合，该肽与核受体超家族的DNA结合域中的氨基酸序列几乎相同。钙网蛋白与系统性狼疮和Sjogren患者某些血清中的抗体结合，这些抗体含有抗Ro / SSA抗体，在物种间高度保守，它位于内质网和肌浆网中，可与钙结合。钙网蛋白的氨基末端与糖皮质激素受体的DNA结合结构域相互作用，并阻止该受体与其特异性糖皮质激素反应元件结合。钙网蛋白可以抑制雄激素受体与其ು୔

国际国内该碱基基因序列的其他英语文字母简称：

CRT, HEL-S-99n, RO, SSA, cC1qR

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19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：13049414；结束位置坐标为：13055304。该基因序列在GRCh38版本中的起始位置坐标为：12938600；结束位置坐标为：12944490。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。