Aldehyde dehydrogenase 18 family, member A1 (redirect from ALDH18A1)
synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is a member of the aldehyde dehydrogenase family and encodes...
14 KB (1,678 words) - 15:44, 27 September 2023
related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 (P5CS). Cutis laxa may also be seen in association with inherited connective...
12 KB (1,176 words) - 12:51, 2 September 2024
deficiency Agenesis of the corpus callosum with peripheral neuropathy ALDH18A1-related de Barsy syndrome ALG9 congenital disorder of glycosylation Alveolar...
15 KB (1,463 words) - 10:18, 20 August 2024
1-pyrroline-5-carboxylate synthase (P5CS). The human P5CS is encoded by the ALDH18A1 gene. The enzyme pyrroline-5-carboxylate reductase converts P5C into proline...
6 KB (460 words) - 17:25, 26 August 2024
may include molecular genetic testing. In individuals with a suspected ALDH18A1-related cases, screening for a specific purine synthesis defect could be...
10 KB (905 words) - 01:41, 21 January 2024
ALDH3B2 ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDH16A1, ALDH18A1 Alcohol dehydrogenase PDB: 1o02; Perez-Miller SJ, Hurley TD (June 2003)...
17 KB (2,080 words) - 11:35, 4 April 2024
601162 ALDH18A1 10q24.1 Autosomal dominant Teenage Cataracts with motor neuronopathy, short stature and skeletal abnormalities SPG9B 616586 ALDH18A1 10q24...
36 KB (3,347 words) - 19:00, 17 April 2024
cell contractility, and cellular metabolism. Variants in genes including ALDH18A1, COL3A1, COL4A1, FBN1 and ACVR1 were implicated in a study of 91 unrelated...
26 KB (3,052 words) - 07:31, 17 February 2024
Q9H2A2 556 ALDH9A1 HGNC:412 P49189 557 ALDH16A1 HGNC:28114 Q8IZ83 558 ALDH18A1 HGNC:9722 P54886 559 ALDOA HGNC:414 P04075 560 ALDOB HGNC:417 P05062 561...
277 KB (17 words) - 18:34, 6 October 2024
Anchoring Protein 9 AKAP13 AKAP13/LBC A-Kinase Anchoring Protein 13 ALDH18A1 ALDH18A1 Delta-1-pyrroline-5-carboxylate synthase ALG13 ALG13 ALG13,...
183 KB (12,460 words) - 13:46, 23 September 2024