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GenoLensGenoLens

DNAH8

Chr 6p21.2

dynein axonemal heavy chain 8

Aliases:
hdhc9
MANE:
ENST00000327475.11

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Laterality disorders and isomerism

  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • spermatogenic failure 46

    0.72
  • primary ciliary dyskinesia

    0.57
  • diabetes mellitus

    0.37
  • inherited obesity

    0.34
  • pericarditis

    0.31
  • type 1 diabetes nephropathy

    0.29
  • ovarian neoplasm

    0.26
  • stroke disorder

    0.24
  • placenta praevia

    0.24
  • Tietze syndrome

    0.24

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

Protein function (UniProt)

Dynein axonemal heavy chain 8

Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum (PubMed:32619401). Produces force towards the minus ends of microtubules (PubMed:32619401). Key component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (PubMed:32619401). Involved in sperm motility; implicated in sperm flagellar assembly (PubMed:32619401)

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.