TBC1 domain family member 24
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDOORS syndrome
familial infantile myoclonic epilepsy
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
autosomal dominant nonsyndromic hearing loss 65
autosomal recessive nonsyndromic hearing loss 86
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
malignant migrating partial seizures of infancy
progressive myoclonic epilepsy with dystonia
deafness-onychodystrophy syndrome
deafness
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
TBC1 domain family member 24
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projection development, probably through negative modulation of ARF6 function (PubMed:20727515). Required for the maintenance of postsynaptic neuron dendritic spines in the adult by suppressing ARF6 activity (PubMed:32004315). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402). Promotes axonal outgrowth and membrane trafficking at the growth cone (By similarity). Positively regulates radial migration and morphological maturation of pyramidal neurons during cortical development by preventing ARF6 activation (By similarity). In one study, has been shown to inhibit the activity of the vacuolar-type ATPase (V-ATPase) by inducing disassembly of the V-ATPase complex (PubMed:38593795). In another study, has been shown to positively regulate V-ATPase assembly in neurons which promotes acidification of lysosomes and synaptic vesicles (By similarity). This supports neuronal autophagy and also regulates synaptic vesicle reacidification and the maintenance of the synaptic vesicle reserve pool (By similarity). Protects neuronal cells against oxidative stress (PubMed:30335140). Involved in the maintainenance of endosomal-mediated vesicle recycling and sustained exocytosis of hair cell ribbon synapses (By similarity). Facilitates formation of tubular recycling endosomes which promotes recycling of clathrin-independent endocytosis cargo proteins back to the plasma membrane (PubMed:32475639)
TBC1D24 · Q9ULP9
Mean pLDDT
84.1/ 100
Confident
559 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
