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CTRB2 (Chymotrypsinogen B2) is a Protein Coding gene. Diseases associated with CTRB2 include Pancreatitis. Among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CTRB1. 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.
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Protein Aliases: Chymotrypsin B2; Chymotrypsin B2 chain A; Chymotrypsin B2 chain B; Chymotrypsin B2 chain C; Chymotrypsinogen B2
Gene Aliases: CTRB2
UniProt ID: (Human) Q6GPI1
Entrez Gene ID: (Human) 440387
Molecular Function: serine protease
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