PRSS1 serine protease 1
Gene ID: 5644, updated on 6-Oct-2024Gene type: protein coding
Also known as: TRP1; TRY1; TRY4; TRYP1
- See all available tests in GTR for this gene
- Go to complete Gene record for PRSS1
- Go to Variation Viewer for PRSS1 variants
Summary
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
Associated conditions
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| Description | Tests |
|---|---|
| Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. GeneReviews: Not available | |
| Hereditary pancreatitis MedGen: C0238339OMIM: 167800GeneReviews: PRSS1-Related Hereditary Pancreatitis, Pancreatitis Overview | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q34
- Sequence:
- Chromosome: 7; NC_000007.14 (142749472..142753072)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRSS1 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
- PRSS1 database
- 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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