SPINK1 serine peptidase inhibitor Kazal type 1
Gene ID: 6690, updated on 2-Nov-2024Gene type: protein coding
Also known as: TCP; PCTT; PSTI; TATI; Spink3
- See all available tests in GTR for this gene
- Go to complete Gene record for SPINK1
- Go to Variation Viewer for SPINK1 variants
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. [provided by RefSeq, Oct 2008]
Associated conditions
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| Description | Tests |
|---|---|
| Hereditary pancreatitis MedGen: C0238339OMIM: 167800GeneReviews: PRSS1-Related Hereditary Pancreatitis, Pancreatitis Overview | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Tropical pancreatitis | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-25) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-10-25) ClinGen Genome Curation Page |
Genomic context
- Location:
- 5q32
- Sequence:
- Chromosome: 5; NC_000005.10 (147824582..147839196, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPINK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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