Aliases for CTRB1 Gene
External Ids for CTRB1 Gene
Previous HGNC Symbols for CTRB1 Gene
Previous GeneCards Identifiers for CTRB1 Gene
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 CTRB1 gene is located head-to-head with the related CTRB2 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 in intron 1 of the CTRB2 gene is diagnostic for this inversion. This CTRB1 gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jan 2021]
GeneCards Summary for CTRB1 Gene
CTRB1 (Chymotrypsinogen B1) is a Protein Coding gene. Diseases associated with CTRB1 include Pancreatitis and Maturity-Onset Diabetes Of The Young. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CTRB2.