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CDC45

Chr 22q11.21

cell division cycle 45

MANE:
ENST00000263201.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Ear-patella-short stature syndrome

    0.80
  • hereditary disease

    0.20
  • microcephaly

    0.11
  • hepatocellular carcinoma

    0.11
  • androgen insensitivity syndrome

    0.11
  • cancer

    0.09
  • neoplasm

    0.08
  • acute myeloid leukemia

    0.08
  • colorectal carcinoma

    0.08
  • gastric cancer

    0.08

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

Protein function (UniProt)

Cell division control protein 45 homolog

Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built

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.