Skip to content
GenoLensGenoLens

WDHD1

Chr 14q22.2-q22.3

WD repeat and HMG-box DNA binding protein 1

Aliases:
AND-1, CTF4, CHTF4
MANE:
ENST00000360586.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Alzheimer disease

    0.46
  • neurodegenerative disease

    0.46
  • multiple sclerosis

    0.46
  • lysosomal storage disease

    0.46
  • Parkinson disease

    0.46
  • Abnormality of limbs

    0.27
  • microcephalic osteodysplastic primordial dwarfism

    0.25
  • microcephalic osteodysplastic primordial dwarfism type II

    0.25
  • fetal growth restriction

    0.18
  • arthropathy

    0.15

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

Protein function (UniProt)

WD repeat and HMG-box DNA-binding protein 1

Core replisome component that acts as a replication initiation factor. Binds directly to the CMG complex and functions as a hub to recruit additional proteins to the replication fork

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.