REG1A

Description

The REG1A (regenerating family member 1 alpha) is a protein-coding gene located on chromosome 2.

REG1A, also known as Pancreatic Stone Protein (PSP), Lithostathine-1-alpha islet cells regeneration factor (ICRF), or islet of Langerhans regenerating protein (REG), is a protein encoded by the REG1A gene. It is produced as a single polypeptide of 144 amino acids that is further cleaved by trypsin to produce a 133 amino acid protein. This protein is O-linked glycosylated on threonine 27 and is a type I subclass member of the Regenerating protein family. The Reg protein family is a multi-protein family grouped into four subclasses (types I, II, III, and IV) based on the primary structures of the proteins. REG1A, along with REG1B, REGL, PAP, and other related genes, are clustered on chromosome 2p12 and may have arisen from the same ancestral gene through gene duplication. PSP is primarily produced by the acinar cells of the pancreas in humans and is secreted into the duodenum by the same pathway as pancreatic exocrine enzymes. It has a C-terminal C-type lectin domain whose binding partner is currently unknown.

PSP has been associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis (the creation of pancreatic stones; pancreatic calculi). Increased blood PSP concentration has been observed in response to sepsis events, making it a potential biomarker for sepsis. Research has confirmed the high diagnostic accuracy of PSP for sepsis.

REG1A is also known as ICRF, P19, PSP, PSPS, PSPS1, PTP, REG.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing