Gene: SPINK1

Alternate names for this Gene: PCTT|PSTI|Spink3|TATI|TCP

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: serine peptidase inhibitor Kazal type 1

Type of Gene: protein-coding

rs4705205 in SPINK1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs104893939 in SPINK1 gene and Hereditary pancreatitis PMID 10835640 2000 Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

PMID 10691414 2000 Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

PMID 18617776 2008 The SPINK1 N34S variant is associated with acute pancreatitis.

PMID 12974284 2003 Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.

PMID 19888199 2010 SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.

PMID 16849362 2006 [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.

PMID 18978175 2009 Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.

PMID 26632706 2015 Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.

PMID 23017645 2013 The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients.

PMID 15980664 2005 Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.

PMID 23741238 2013 Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation.

PMID 28546062 2017 Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update.

PMID 17568390 2007 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

PMID 12483248 2002 Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

PMID 28984793 2018 SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.

PMID 17466744 2007 Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.

PMID 18414673 2008 Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

PMID 28556356 2017 Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.

PMID 17525091 2007 Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.

PMID 23951356 2013 A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

PMID 19299380 2009 The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.

PMID 14722925 2004 Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

PMID 22572128 2012 Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.

rs17107315 in SPINK1 gene and PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO PMID 19453252 2009 Chronic pancreatitis: genetics and pathogenesis.

PMID 28609377 2017 Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele.

PMID 28556356 2017 Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.

PMID 23951356 2013 A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

PMID 17525091 2007 Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.

PMID 22427236 2013 CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

PMID 18286680 2008 Role of genetic disorders in acute recurrent pancreatitis.

PMID 12187509 2002 SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

PMID 12743777 2003 Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan.

PMID 16885867 2006 Estimation of the prevalence and incidence of chronic pancreatitis and its complications.

PMID 10691414 2000 Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

PMID 24522117 2014 Genetics of pancreatitis: the 2014 update.

PMID 10835640 2000 Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

PMID 22749696 2012 Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

PMID 25206283 2014 PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis.

PMID 12011155 2002 Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.

PMID 17204147 2007 Hereditary chronic pancreatitis.

rs17107315 in SPINK1 gene and TROPICAL CALCIFIC PANCREATITIS PMID 12187509 2002 SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

PMID 12011155 2002 Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.