Serine Peptidase Inhibitor, Kunitz Type 2 Recombinant Protein | SPINT2 recombinant protein
Recombinant Human Serine Peptidase Inhibitor, Kunitz Type 2
Introduction: SPINT2 is a transmembrane protein acts as an inhibitor of HGF activator. SPINT2 inhibits plasmin, plasma and tissue kallikrein, and factor XIa. SPINT2 has two extracellular Kunitz domains that inhibit few serine proteases. SPINT2 is assumed tumor suppressor, mutations in SPINT2 leads to a congenital sodium diarrhea.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Uniprot Description
SPINT2: Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa. Defects in SPINT2 are the cause of diarrhea type 3 (DIAR3); also known as congenital sodium diarrhea (CSD). DIAR3 is a rare, inherited diarrhea of infancy. A diagnosis of DIAR3 is made on the findings of a life-threatening secretory diarrhea, severe metabolic acidosis, and hyponatremia secondary to extraordinarily high fecal losses of sodium, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune, and endocrine causes. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Inhibitor
Chromosomal Location of Human Ortholog: 19q13.1
Cellular Component: cytoplasm; extracellular region; integral to membrane
Molecular Function: serine-type endopeptidase inhibitor activity; endopeptidase inhibitor activity
Biological Process: cell motility
Disease: Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
