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LRPAP1

Chr 4p16.3

LDL receptor related protein associated protein 1

Aliases:
HBP44, Alpha-2-MRAP
MANE:
ENST00000650182.1
OMIM: 104225 ↗NCBI: 4043 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Rare isolated myopia

    0.65

  • Abnormality of limbs

    0.24

  • Abnormality of the skeletal system

    0.15

  • cleft palate

    0.15

  • Familial prostate cancer

    0.11

  • prostate cancer

    0.11

  • bronchial disorder

    0.09

  • mantle cell lymphoma

    0.08

  • esophageal squamous cell carcinoma

    0.07

  • diabetes mellitus

    0.07

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

Protein function (UniProt)

Alpha-2-macroglobulin receptor-associated protein

Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway

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.