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GenoLensGenoLens

CTRC

Chr 1p36.21

chymotrypsin C

Aliases:
CLCR, ELA4
MANE:
ENST00000375949.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Pancreatitis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • hereditary chronic pancreatitis

    0.76
  • chronic pancreatitis

    0.75
  • alcoholic pancreatitis

    0.42
  • acute pancreatitis

    0.35
  • non-alcoholic pancreatitis

    0.35
  • Syndactyly type 2

    0.06
  • retinitis pigmentosa

    0.06
  • Hirschsprung disease-type D brachydactyly syndrome

    0.06
  • Hirschsprung disease - type D brachydactyly

    0.06
  • metaphyseal anadysplasia

    0.06

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

Protein function (UniProt)

Chymotrypsin-C

Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity

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.