dystonin
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalEpidermolysis bullosa
BIALLELIC, autosomal or pseudoautosomalEpidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalCongenital myopathy
BIALLELIC, autosomal or pseudoautosomal+3 more panels — install the extension to see the full list inline on any page.
hereditary sensory and autonomic neuropathy type 6
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
cardiomyopathy
hereditary disease
congenital myopathy with cores
arthrogryposis
corneal dystrophy, punctiform and polychromatic pre-descemet
congenital myopathy
KRT14-related epidermolysis bullosa simplex
multiple sclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Dystonin
Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity)
Curated MONDO disease pages that list DST among their top associated genes.
DST · Q03001-3isoform
No predicted structure exists for the canonical Q03001 sequence; metrics below describe this isoform.
Mean pLDDT
67.6/ 100
Low
2,649 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
