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GenoLensGenoLens

DCT

Chr 13q32.1

dopachrome tautomerase

Aliases:
TRP-2, TRP2
MANE:
ENST00000377028.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Albinism or congenital nystagmus

    BIALLELIC, autosomal or pseudoautosomal
  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • oculocutaneous albinism type 8

    0.75
  • hair color

    0.42
  • albinism

    0.36
  • age related macular degeneration 7

    0.33
  • alcohol drinking

    0.30
  • Vertigo

    0.29
  • Pancreatic pseudocyst

    0.29
  • Abnormality of skin pigmentation

    0.26
  • suntan

    0.25
  • hereditary disease

    0.19

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

Protein function (UniProt)

L-dopachrome tautomerase

Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA)

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.