About: SPINK1 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • SPINK1 wt Allele
equivalentClass
OMIM_Number
  • 167790
GenBank_Accession_Number
  • NM_003122
Semantic_Type
  • Gene or Genome
Preferred_Name
  • SPINK1 wt Allele
UMLS_CUI
  • C1709995
GO_Annotation
  • endopeptidase inhibitor activityGO:0004866TAS29-SEP-2003CGAP
EntrezGene_ID
  • 6690
Legacy_Concept_Name
  • SPINK1_wt_Allele
HGNC_ID
  • HGNC:11244
FULL_SYN
  • TATISYNCI
  • PCTTSYNCI
  • PSTISYNCI
  • SPINK1 wt AllelePTNCI
  • Spink3SYNCI
  • Serine Protease Inhibitor, Kazal Type 1 wt AlleleSYNCI
Gene_Encodes_Product
  • Serine Protease Inhibitor, Kazal Type 1
DEFINITION
  • Human SPINK1 wild-type allele is located within 5q32 and is approximately 7 kb in length. This allele, which encodes pancreatic secretory trypsin inhibitor protein, is involved in the inhibition of premature trypsin-catalyzed zymogen activation in the pancreas. Certain allelic variants of the SPINK1 gene cause chronic pancreatitis and confer susceptibility to fibrocalculous pancreatic diabetes. Mutated forms of the pancreatic secretory trypsin inhibitor protein are also involved in the development of tropical calcific pancreatitis.NCI
DesignNote
  • The SPINK1 gene is expressed in pancreatic acinar cells and its protein product is secreted into pancreatic juice. This gene is also expressed in gastrointestinal mucosa. Secretory trypsin inhibitor protein putatively protects mucosal cells from proteolytic breakdown.
code
  • C51412
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