ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene. The protein encoded by this gene belongs to the family of P-type cation...
12 KB (1,482 words) - 11:41, 19 August 2024
waking. Most frequently AHC is caused by a spontaneous mutation in the ATP1A3 gene. It is an extremely rare disorder – approximately one in one million...
25 KB (2,582 words) - 12:12, 13 July 2024
dystonia-parkinsonism (RDP). Both these conditions arise from specific mutations in the ATP1A3 gene. Flunarizine extended motor neuron survival in spinal cord, protected...
9 KB (773 words) - 16:00, 19 February 2024
Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2. Another report has linked THAP1 and SLC20A2 to dystonia. Symptoms...
40 KB (3,522 words) - 17:36, 3 August 2024
Na+,K+-ATPase." Alpha: ATP1A1, ATP1A2, ATP1A3, ATP1A4. ATP1A1 is expressed ubiquitously in vertebrates, and ATP1A3 in neural tissue. ATP1A2 is also known...
38 KB (4,367 words) - 16:52, 26 June 2024
polymicrogyria has been associated with the channel gene SCN3A and the pump gene ATP1A3, among other genes that are not ion transporters. Template: ATPase disorders...
14 KB (1,120 words) - 03:33, 20 May 2024
This condition is caused by autosomal dominant missense mutations in the ATP1A3 gene, in chromosome 19. The mutation is thought to be gain-of-function....
7 KB (546 words) - 22:03, 2 December 2023
is the mutation of ATP1A3 gene. In a study of fifteen female and nine male patients with alternating hemiplegia, a mutation in ATP1A3 gene was present....
13 KB (1,394 words) - 21:29, 17 July 2024
COL4A4, and COL4A5 1:5,000-10,000 Alternating hemiplegia of childhood ATP1A3 1:1,000,000 Aortic arch anomaly - peculiar facies - intellectual disability...
42 KB (983 words) - 10:34, 21 August 2024
two main conformations, E1 and E2. Na+/K+ transporting: ATP1A1, ATP1A2, ATP1A3, ATP1A4, ATP1B1, ATP1B2, ATP1B3, ATP1B4 Ca++ transporting: ATP2A1, ATP2A2...
18 KB (2,106 words) - 04:39, 11 July 2024
infection in collaboration with John McHutchison and others. Identification of ATP1A3 as the gene responsible for Alternating Hemiplegia of Childhood in collaboration...
7 KB (742 words) - 04:26, 22 April 2024
HGNC:798 O00244 1224 ATP1A1 HGNC:799 P05023 1225 ATP1A2 HGNC:800 P50993 1226 ATP1A3 HGNC:801 P13637 1227 ATP1A4 HGNC:14073 Q13733 1228 ATP1B1 HGNC:804 P05026...
277 KB (17 words) - 23:17, 27 April 2024
human TSC. Variations within the sodium channel SCN3A, and Na+/K+,ATPase (ATP1A3), has been implicated in cortical malformations. Recapitulation of corticogenesis...
23 KB (2,929 words) - 07:32, 15 June 2024
protein SARS2: seryl-tRNA synthetase 2, mitochondrial. Gene map locus 19q13.2 ATP1A3: ATPase. Gene map locus 19q13.31 DMWD: DM1 locus, WD repeat containing....
30 KB (2,547 words) - 01:46, 3 December 2023
ATPase: ATP2B1, ATP2B2, ATP2B3, ATP2B4 P2C: Na+/K+ ATPase: ATP1A1, ATP1A2, ATP1A3, ATP1A4, ATP1B1, ATP1B2, ATP1B3, ATP1B4 P2C: H+/K+ ATPase, gastric: ATP4A;...
42 KB (5,160 words) - 12:04, 17 June 2024
Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations". The Application of Clinical Genetics. 13: 71–81. doi:10.2147/TACG...
14 KB (1,233 words) - 09:50, 22 March 2024
Institute of Neurological Disorders and Stroke to study the genetic mutation of ATP1A3. The results of her research project, which surveyed 56 individuals, found...
8 KB (753 words) - 03:57, 27 May 2024
128100; DYT1 Dystonia-11, myoclonic; 159900; SGCE Dystonia-12; 128235; ATP1A3 Dystonia-parkinsonism, adult-onset; 612953; PLA2G6 Dystonia-Parkinsonism...
234 KB (18,877 words) - 15:43, 9 May 2024