dynein axonemal heavy chain 5
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLaterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomalNon-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomalPrimary ciliary disorders
BIALLELIC, autosomal or pseudoautosomalRespiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomalDuctal plate malformation
BIALLELIC, autosomal or pseudoautosomalFamilial pulmonary fibrosis
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primary ciliary dyskinesia
Heterotaxy
hereditary disease
bronchiectasis
alcohol drinking
situs inversus
infertility disorder
glycine encephalopathy 1
male infertility
Kartagener Syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Dynein axonemal heavy chain 5
Force generating protein of respiratory cilia (By similarity). Produces force towards the minus ends of microtubules (By similarity). 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 (By similarity). Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles (By similarity)
Curated MONDO disease pages that list DNAH5 among their top associated genes.
DNAH5 · Q8TE73
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
