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KIF12

Chr 9q32

kinesin family member 12

MANE:
ENST00000640217.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cholestasis, progressive familial intrahepatic, 8

    0.69
  • cholestasis

    0.38
  • pathological myopia

    0.34
  • Alzheimer disease

    0.29
  • neurodegenerative disease

    0.29
  • multiple sclerosis

    0.29
  • lysosomal storage disease

    0.29
  • Parkinson disease

    0.29
  • urolithiasis

    0.29
  • alcohol drinking

    0.29

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

Protein function (UniProt)

Kinesin-like protein KIF12

Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation (PubMed:39920308). The adapter function requires the C-terminal proline-rich domain and may be apart from the kinesin motor activity (Probable)

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.