dehydrogenase 7 family, member A1, also known as ALDH7A1 or antiquitin, is an enzyme that in humans is encoded by the ALDH7A1 gene. The protein encoded by this gene...
14 KB (1,783 words) - 03:59, 27 February 2024
by Hunt et al. in 1954. More recently, pathogenic variants within the ALDH7A1 gene have been identified to cause PDE. PDE is inherited in an autosomal...
7 KB (718 words) - 13:50, 3 December 2023
implicated in several disease states, including pyridoxine-dependent epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric...
68 KB (7,547 words) - 20:48, 20 October 2024
HGNC:406 P30038 552 ALDH5A1 HGNC:408 P51649 553 ALDH6A1 HGNC:7179 Q02252 554 ALDH7A1 HGNC:877 P49419 555 ALDH8A1 HGNC:15471 Q9H2A2 556 ALDH9A1 HGNC:412 P49189...
277 KB (17 words) - 18:34, 6 October 2024
Genetically confirmed diagnoses of diseases affecting vitamin B6 metabolism (ALDH7A1 deficiency, pyridoxine-5'-phosphate oxidase deficiency, PLP binding protein...
62 KB (7,074 words) - 19:18, 7 November 2024
ALDH1L2 ALDH2 ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2 ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDH16A1, ALDH18A1 Alcohol dehydrogenase PDB: 1o02;...
17 KB (2,080 words) - 11:35, 4 April 2024
Looking at other key enzymes within the L-lysine degradation pathway, ALDH7A1 is deficient in children with pyridoxine-dependent seizures. GCDH is deficient...
17 KB (1,908 words) - 00:04, 28 November 2023
progressive myoclonic 3; 611726; KCTD7 Epilepsy, pyridoxine-dependent; 266100; ALDH7A1 Epilepsy, severe myoclonic, of infancy; 607208; SCN1A Epilepsy, X-linked...
234 KB (18,877 words) - 06:16, 6 November 2024