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AP5B1

Chr 11q13.1

adaptor related protein complex 5 subunit beta 1

Aliases:
PP1030, AP-5, DKFZp761E198
MANE:
ENST00000532090.3
OMIM: 614367 ↗NCBI: 91056 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • macular dystrophy, retinal

    0.18

  • hereditary spastic paraplegia

    0.16

  • breast cancer

    0.12

  • systemic lupus erythematosus

    0.12

  • gout

    0.12

  • erythematosquamous dermatosis

    0.11

  • psoriasis

    0.10

  • asthma

    0.07

  • Eczematoid dermatitis

    0.07

  • Isolated anophthalmia - microphthalmia

    0.06

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

Protein function (UniProt)

AP-5 complex subunit beta-1

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport

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.