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LRRC45

Chr 17q25.3

leucine rich repeat containing 45

Aliases:
MGC20806
MANE:
ENST00000306688.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Neurological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Ophthalmological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.28
  • ciliopathy

    0.25
  • Abnormal brain morphology

    0.25
  • neurodevelopmental disorder

    0.25
  • neuroblastoma

    0.17
  • lung carcinoma

    0.03
  • lung cancer

    0.03
  • urinary bladder carcinoma

    0.02
  • urinary bladder cancer

    0.02
  • Cone rod dystrophy

    0.01

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

Protein function (UniProt)

Leucine-rich repeat-containing protein 45

Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion (PubMed:24035387). Is probably involved in the early stages of ciliogenesis (PubMed:30131441, PubMed:39638757). Plays a role in the organization of centriolar satellites, likely by regulating the accumulation of centriolar satellite proteins, such as PCM1 and SSX2IP, at the centrosome (PubMed:30131441)

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.