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...

deficiency Agenesis of the corpus callosum with peripheral neuropathy ALDH18A1-related de Barsy syndrome ALG9 congenital disorder of glycosylation Alveolar...

related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 (P5CS). Cutis laxa may also be seen in association with inherited connective...

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...

ALDH3B2 ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDH16A1, ALDH18A1 Alcohol dehydrogenase PDB: 1o02​; Perez-Miller SJ, Hurley TD (June 2003)...

601162 ALDH18A1 10q24.1 Autosomal dominant Teenage Cataracts with motor neuronopathy, short stature and skeletal abnormalities SPG9B 616586 ALDH18A1 10q24...

Anchoring Protein 9 AKAP13 AKAP13/LBC A-Kinase Anchoring Protein 13 ALDH18A1 ALDH18A1 Delta-1-pyrroline-5-carboxylate synthase ALG13 ALG13 ALG13,...

Q9H2A2 557 ALDH9A1 HGNC:412 P49189 558 ALDH16A1 HGNC:28114 Q8IZ83 559 ALDH18A1 HGNC:9722 P54886 560 ALDOA HGNC:414 P04075 561 ALDOB HGNC:417 P05062 562...

cell contractility, and cellular metabolism. Variants in genes including ALDH18A1, COL3A1, COL4A1, FBN1 and ACVR1 were implicated in a study of 91 unrelated...

Microcephaly 6 616212 2015 DCPS Recessive Al-Raqad syndrome 616459 2015 ALDH18A1 Dominant Dominant Cutis laxa type 3 616603 2016 NLRP1 Dominant Multiple...