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LPAR6

Chr 13q14.2

lysophosphatidic acid receptor 6

Aliases:
P2Y5
MANE:
ENST00000620633.5

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ectodermal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Non-syndromic hypotrichosis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypotrichosis simplex

    0.74
  • hypotrichosis 8

    0.73
  • hypotrichosis 7

    0.46
  • wooly hair, autosomal recessive 1, with or without hypotrichosis

    0.45
  • isolated familial wooly hair disorder

    0.37
  • Woolly hair

    0.37
  • wooly hair, autosomal recessive 3

    0.34
  • hereditary disease

    0.19
  • retinoblastoma

    0.12
  • hepatocellular carcinoma

    0.11

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

Protein function (UniProt)

Lysophosphatidic acid receptor 6

Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture

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.