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DOCK6

Chr 19p13.2

dedicator of cytokinesis 6

Aliases:
KIAA1395, ZIR1
MANE:
ENST00000294618.12

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Adams-Oliver syndrome

    0.79
  • hereditary disease

    0.51
  • bone Paget disease

    0.26
  • hypercholanemia, familial 1

    0.26
  • Raynaud disease

    0.24
  • Alzheimer disease

    0.21
  • Parkinson disease

    0.21
  • lysosomal storage disease

    0.21
  • neurodegenerative disease

    0.21
  • multiple sclerosis

    0.21

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

Protein function (UniProt)

Dedicator of cytokinesis protein 6

Acts as a guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity)

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.