Gene: CTRB1

Alternate names for this Gene: CTRB

Gene Summary: 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 gene is located adjacent to a related chymotrypsinogen gene. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.1

Description of this Gene: chymotrypsinogen B1

Type of Gene: protein-coding

rs8056814 in CTRB1 gene and Diabetes Mellitus, Insulin-Dependent PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.