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The official name of this gene is “serine peptidase inhibitor, Kazal type 1.”
SPINK1 is the gene's official symbol. The SPINK1 gene is also known by other names, listed below.
The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens.In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production.
Pancreatitis, hereditary (PCTT): A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tropical calcific pancreatitis (TCP): Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer. Disease susceptibility is associated with variations affecting the gene represented in this entry.
|167800 (http://omim.org/entry/167800)||PANCREATITIS, HEREDITARY|
|608189 (http://omim.org/entry/608189)||TROPICAL CALCIFIC PANCREATITIS|
|167790 (http://omim.org/entry/167790)||SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1|
Cytogenetic Location: 5q32
Molecular Location on chromosome 5: base pairs 147,824,580 to 147,839,231
The SPINK1 gene is located on the long (q) arm of chromosome 5 at position 32.
More precisely, the SPINK1 gene is located from base pair 147,824,580 to base pair 147,839,231 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SPINK1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
calcification ; calcium ; cancer ; chronic ; diabetes ; diabetes mellitus ; duct ; gene ; hereditary ; idiopathic ; incidence ; inflammation ; insulin ; juvenile ; ketosis ; pancreas ; pancreatic ; pancreatitis ; protease ; protein ; serine ; sperm ; susceptibility ; trypsin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.