Recombinant Human Aldehyde dehydrogenase family 3 member A2 (ALDH3A2)

1. Homozygous ALDH3A2 mutations exhibited an unusual neuro-regressive clinical course associated with seizures in Sjogren-Larsson syndrome patients, which may reflect the presence of unidentified genetic or environmental modifiers in this consanguineous population. PMID: 29183715
2. In female infertility, ALDH3A2 expression levels were higher in patients greater than 40 years of age and in poor responders compared to oocyte donors. PMID: 26449735
3. Sjogren-Larsson syndrome belongs to a new group of inborn-errors-of-metabolism with inherited defects in phospholipids, sphingolipids and fatty-acids biosynthesis. It is caused by ALDH3A2 gene mutations. PMID: 25532748
4. A previously unreported novel ALDH3A2 mutation was identified, c.681-14T>G, in a Sjogren-Larsson syndrome patient (homozygote) and his asymptomatic parents (heterozygotes). PMID: 24377952
5. The gatekeeper helix domain is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. PMID: 25047030
6. Sjogren-Larsson Syndrome patients with ALDH3A2 mutations exhibit retinal disease in retinal cell layers PMID: 25784589
7. variation in the neurologic phenotype of Sjogren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or a biochemical defect, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms. PMID: 23034980
8. Five unrelated patients with typical Sjogren-Larsson syndrome all present mutations in the ALDH3A2 gene. PMID: 21872273
9. the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid PMID: 22633490
10. We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC. PMID: 22397046
11. We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2. PMID: 21684788
12. SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes. PMID: 21524986
13. The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations. PMID: 20883264
14. Fibroblasts of patients affected by Sjogren Larsson syndrome were found to be deficient in microsomal fatty aldehyde dehydrogenase. PMID: 15110319
15. seven novel ALDH3A2 mutations and their associated haplotypes envolved in Sjogren-Larsson Syndrome were identified in 13 patients and one fetus. PMID: 15241804
16. REVIEW: mutation update of Sjogren-Larsson syndrome PMID: 15931689
17. We report novel compound heterozygous mutations in ALDH3A2 in a Japanese family with Sjogren-Larsson syndrome. PMID: 16794583
18. Minireview summarizes recent advances in the molecular genetics of fatty aldehyde dehydrogenase (FALDH) deficiency and the biochemical pathogenesis of Sjogren-Larsson syndrome. PMID: 16996289
19. FALDH variants are produced by alternative splicing and share an important role in protecting against oxidative stress in an organelle-specific manner. PMID: 17510064
20. These results add to understanding of the genetic basis of Sjogren-Larsson syndrome. PMID: 17902024
21. FALDH deficiency in keratinocytes from patients with Sjogren-Larsson syndrome causes accumulation and diversion of fatty alcohol into alternative biosynthetic pathways. PMID: 17971613
22. Mutational analysis identified compound heterozygous mutations in each allele of fatty aldehyde dehydrogenase gene, confirming Sjogren-Larsson syndrome. PMID: 17998529
23. A structural model of FALDH has been constructed, and catalytically important residues have been proposed to be involved in alcohol and aldehyde oxidation: Gln-120, Glu-207, Cys-241, Phe-333, Tyr-410 and His-411. PMID: 18035827

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HGNC: 403

OMIM: 270200

KEGG: hsa:224

STRING: 9606.ENSP00000345774

UniGene: Hs.499886