Pancreatic secretory trypsin inhibitor
The SPINK1 gene encodes a trypsin inhibitor that prevents premature trypsin activation in the ductus pancreaticus. Mutations cause autosomal recessive or dominant pancreatitis.
Genetests:
Related Diseases:
References:
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Witt H et al. (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
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2. |
Masson E et al. (2006) Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
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3. |
Kuwata K et al. (2002) Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.
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4. |
Hassan Z et al. (2002) SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.
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5. |
Chandak GR et al. (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.
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6. |
Kaneko K et al. (2001) Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.
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7. |
Mohan V et al. (1998) Fibrocalculous pancreatic diabetes.
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8. |
Huhtala ML et al. (1982) Purification and characterization of a tumor-associated trypsin inhibitor from the urine of a patient with ovarian cancer.
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9. |
Stenman UH et al. (1982) Immunochemical demonstration of an ovarian cancer-associated urinary peptide.
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Yamamoto T et al. (1985) Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA.
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11. |
Horii A et al. (1987) Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.
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12. |
Mohan V et al. (1989) Familial aggregation in tropical fibrocalculous pancreatic diabetes.
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13. |
Király O et al. (2007) Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
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14. |
Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
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15. |
Chen JM et al. (2000) Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.
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16. |
Orphanet article
Orphanet ID 119834
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17. |
NCBI article
NCBI 6690
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18. |
OMIM.ORG article
Omim 167790
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19. |
Wikipedia article
Wikipedia EN (SPINK1)
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Update: Aug. 14, 2020