dynactin subunit 1
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Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownParkinson Disease and Complex Parkinsonism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dementia (encompassing fronto-temporal dementia and prion disease)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+3 more panels — install the extension to see the full list inline on any page.
Perry syndrome
amyotrophic lateral sclerosis
neuronopathy, distal hereditary motor, type 7B
cancer
sporadic amyotrophic lateral sclerosis
neurodegenerative disease
familial amyotrophic lateral sclerosis
distal hereditary motor neuropathy type 7
spitz nevus
melanocytic neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Dynactin subunit 1
Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity). Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitment to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020)
Curated MONDO disease pages that list DCTN1 among their top associated genes.
DCTN1 · Q14203
Mean pLDDT
76.6/ 100
Confident
1,278 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
