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GenoLensGenoLens

LRP12

Chr 8q22.3

LDL receptor related protein 12

Aliases:
ST7, FLJ12929
MANE:
ENST00000276654.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • oculopharyngodistal myopathy

    0.47
  • oculopharyngodistal myopathy 1

    0.45
  • amyotrophic lateral sclerosis 28

    0.43
  • hypertensive disorder

    0.40
  • amyotrophic lateral sclerosis

    0.38
  • type 2 diabetes mellitus

    0.34
  • alcohol drinking

    0.33
  • atrial fibrillation

    0.32
  • respiratory tract infectious disorder

    0.29
  • Abnormal abdomen morphology

    0.25

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

Protein function (UniProt)

Low-density lipoprotein receptor-related protein 12

Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor

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.