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AEBP1

Chr 7p13

AE binding protein 1

Aliases:
ACLP
MANE:
ENST00000223357.8
OMIM: 602981 ↗NCBI: 165 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ehlers Danlos syndrome with a likely monogenic cause

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Ehlers-Danlos syndrome, classic-like, 2

    0.71

  • Abnormality of the skeletal system

    0.40

  • Ehlers-Danlos syndrome type 2

    0.37

  • Ehlers-Danlos syndrome, classic type, 1

    0.34

  • carpal tunnel syndrome

    0.27

  • autism spectrum disorder

    0.27

  • Ehlers-Danlos syndrome due to tenascin-X deficiency

    0.19

  • hereditary disease

    0.17

  • glioblastoma

    0.11

  • pathological myopia

    0.11

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

Protein function (UniProt)

Adipocyte enhancer-binding protein 1

As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellular matrix

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.