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TBC1D24 encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. Additionally we are shipping TBC1D24 Antibodies (7) and many more products for this protein.
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TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death
TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures.
mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco
This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear.
Novel variations in TBC1D24 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI).
Recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness in human.
Mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes.
A TBC1D24 mutation associated with focal epilepsy, cognitive impairment and cerebro-cerebellar malformation is found in a family with a homozygous TBC1D24 mutation.
Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy.
A pathogenic mutation was identified in TBC1D24.
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants.
TBC1 domain family member 24
, TBC1 domain family, member 24
, putative vacuolar H+ ATP synthase 16 kDa proteolipid subunit variant 1
, TBC/LysM-associated domain containing 6