CTRB2 - chymotrypsinogen B2 Gene

中文名称：糜蛋白酶原 B2

种属: Homo sapiens

关于 CTRB2

功能概要

该基因编码丝氨酸蛋白酶家族的一个成员，并形成胰腺蛋白水解酶的主要前体。编码的前原蛋白在胰腺的腺泡细胞中合成并分泌到小肠中，在那里它经历蛋白水解激活以产生功能性酶。该 CTRB2 基因与相关的 CTRB1 基因并驾齐驱。一些人群有一个替代的单倍型，它反转了一个 16.6 Kb 的区域，其中包含部分内含子 1、外显子 1 以及 CTRB1 和 CTRB2 基因的上游序列。在此反转单倍型外显子 1 和侧翼序列在 CTRB1 和 CTRB2 中交换。这种反转与差异基因表达和慢性胰腺炎风险增加有关。 GRCh38 组装代表 CTRB1 基因的 SNP rs8048956 的次要等位基因。 SNP rs8048956 可诊断此反转。[RefSeq 提供，2021 年 1 月]

This gene encodes a member of the serine protease family of Enzymes and forms a principal precursor of the pancreatic proteolytic Enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB2 gene is located head-to-head with the related CTRB1 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 is diagnostic for this inversion. [provided by RefSeq, Jan 2021]