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KIF24

Chr 9p13.3

kinesin family member 24

Aliases:
bA571F15.4, FLJ10933, FLJ43884
MANE:
ENST00000402558.7

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • skeletal dysplasia

    0.46
  • asphyxiating thoracic dystrophy 3

    0.33
  • adolescent idiopathic scoliosis

    0.28
  • osteoarthritis, hip

    0.24
  • placenta praevia

    0.24
  • total joint arthroplasty

    0.24
  • placental retention

    0.24
  • osteoarthritis, knee

    0.24
  • neurodegenerative disease

    0.21
  • peripheral neuropathy

    0.12

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

Protein function (UniProt)

Kinesin-like protein KIF24

Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation (PubMed:21620453). Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppress nascent cilium assembly and, potentially, ciliar re-assembly in cells that have already disassembled their cilia ensuring the completion of cilium removal in the later stages of the cell cycle (PubMed:26290419). Plays an important role in recruiting MPHOSPH9, a negative regulator of cilia formation to the distal end of mother centriole (PubMed:30375385)

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.