ALDH3A2 (aldehyde dehydrogenase 3 family member A2)

2007-04-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
ALDH10,FALDH,SLS
FUSION GENES

Other Information

Locus ID:

NCBI: 224
MIM: 609523
HGNC: 403
Ensembl: ENSG00000072210

Variants:

dbSNP: 224
ClinVar: 224
TCGA: ENSG00000072210
COSMIC: ALDH3A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072210ENST00000176643P51648
ENSG00000072210ENST00000339618P51648
ENSG00000072210ENST00000395575P51648
ENSG00000072210ENST00000472059I3L0X1
ENSG00000072210ENST00000571163I3L2W1
ENSG00000072210ENST00000571537I3L1M4
ENSG00000072210ENST00000573565J3QQV9
ENSG00000072210ENST00000573947J3KTD9
ENSG00000072210ENST00000575384I3L4G6
ENSG00000072210ENST00000578614J3QKK9
ENSG00000072210ENST00000578696J3QS00
ENSG00000072210ENST00000579855P51648
ENSG00000072210ENST00000580550J3KTG1
ENSG00000072210ENST00000581518P51648
ENSG00000072210ENST00000582991J3QRD1
ENSG00000072210ENST00000584332K7EN73
ENSG00000072210ENST00000626500I3L0X1
ENSG00000072210ENST00000630662I3L2W1
ENSG00000072210ENST00000631291J3QRD1

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Ascorbate and aldarate metabolismKEGGko00053
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Lysine degradationKEGGko00310
Arginine and proline metabolismKEGGko00330
Histidine metabolismKEGGko00340
Tryptophan metabolismKEGGko00380
beta-Alanine metabolismKEGGko00410
Glycerolipid metabolismKEGGko00561
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Ascorbate and aldarate metabolismKEGGhsa00053
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Lysine degradationKEGGhsa00310
Arginine and proline metabolismKEGGhsa00330
Histidine metabolismKEGGhsa00340
Tryptophan metabolismKEGGhsa00380
beta-Alanine metabolismKEGGhsa00410
Glycerolipid metabolismKEGGhsa00561
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
GABA biosynthesis, eukaryotes, putrescine => GABAKEGGhsa_M00135
GABA biosynthesis, eukaryotes, putrescine => GABAKEGGM00135
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Alpha-oxidation of phytanateREACTOMER-HSA-389599
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
372477962023Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.6
372477962023Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.6
340824692021Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.0
340824692021Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.0
320858852020Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.6
325069932020Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.1
329305142020Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.1
331482082020Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.23
320858852020Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.6
325069932020Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.1
329305142020Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.1
331482082020Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.23
303725622019Genotype and phenotype variability in Sjögren-Larsson syndrome.16
312733232019Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.4
313887542019Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.6

Citation

Dessen P

ALDH3A2 (aldehyde dehydrogenase 3 family member A2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46832/img/js/favicon/favicon-32x32.png