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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SPINK1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SPINK1 gene?

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.

What is the normal function of the SPINK1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6690):

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]

From UniProt (http://www.uniprot.org/uniprot/P00995):

This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature activation of zymogens within the pancreas.

How are changes in the SPINK1 gene related to health conditions?

Genetics Home Reference provides information about hereditary pancreatitis, which is associated with changes in the SPINK1 gene.
UniProt (http://www.uniprot.org/uniprot/P00995) provides the following information about the SPINK1 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6690) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SPINK1 gene.
  • Hereditary pancreatitis
  • Tropical calcific pancreatitis
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SPINK1 gene and its association with health conditions.
OMIM
Number
Title

Where is the SPINK1 gene located?

Cytogenetic Location: 5q32

Molecular Location on chromosome 5: base pairs 147,824,579 to 147,839,230

The SPINK1 gene is located on the long (q) arm of chromosome 5 at position 32.

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 147,824,579 to base pair 147,839,230 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SPINK1?

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.

What other names do people use for the SPINK1 gene or gene products?

  • PCTT
  • PSTI
  • Spink3
  • TATI
  • TCP

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SPINK1?

calcification ; cancer ; chronic ; diabetes ; diabetes mellitus ; duct ; gene ; hereditary ; idiopathic ; incidence ; inflammation ; insulin ; juvenile ; ketosis ; pancreas ; pancreatic ; pancreatitis ; protein ; susceptibility ; trypsin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.

 
Published: December 16, 2014