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GDI1

Chr Xq28

GDP dissociation inhibitor 1

Aliases:
RABGDIA, XAP-4, OPHN2, FLJ41411
MANE:
ENST00000447750.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • X-linked non-syndromic intellectual disability

    0.73
  • non-syndromic X-linked intellectual disability

    0.46
  • hereditary disease

    0.45
  • Intellectual disability

    0.37
  • X-linked intellectual disability, Siderius type

    0.37
  • Alzheimer disease

    0.35
  • multiple sclerosis

    0.34
  • Parkinson disease

    0.34
  • neurodegenerative disease

    0.34
  • lysosomal storage disease

    0.34

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

Protein function (UniProt)

Rab GDP dissociation inhibitor alpha

Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes

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.