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CPA1

Chr 7q32.2

carboxypeptidase A1

MANE:
ENST00000011292.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Pancreatitis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.47
  • neurodegenerative disease

    0.45
  • hereditary chronic pancreatitis

    0.40
  • Increased blood pressure

    0.32
  • chronic pancreatitis

    0.20
  • infection

    0.08
  • type 1 diabetes mellitus

    0.07
  • Hyperlipoproteinemia type 1

    0.06
  • cancer

    0.06
  • Partial pancreatic agenesis

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Carboxypeptidase A1

Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro (PubMed:20385563, PubMed:8806703). Catalyzes the conversion of leukotriene C4 to leukotriene F4 via the hydrolysis of an amide bond (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.