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RABGAP1

Chr 9q33.2-q33.3

RAB GTPase activating protein 1

Aliases:
GAPCenA, TBC1D11
MANE:
ENST00000373647.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • diabetes mellitus

    0.29
  • type 2 diabetes mellitus

    0.26
  • lysosomal storage disease

    0.25
  • amyloidosis

    0.24
  • osteoarthritis, knee

    0.20
  • diabetic neuropathy

    0.20
  • cartilage disease

    0.19
  • complex neurodevelopmental disorder

    0.18
  • kidney failure

    0.18

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

Protein function (UniProt)

Rab GTPase-activating protein 1

May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition

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.