ALDH6A1 Chromosome 14
Aldehyde dehydrogenase 6 family member A1
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What This Gene Does
This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119711
Associated Conditions (3)
Methylmalonate semialdehyde dehydrogenase deficiency
ALDH6A1-related disorder
Uterine corpus endometrial carcinoma
Key Variants
RS111975186
Conflicting classifications of pathogenicity
Methylmalonate semialdehyde dehydrogenase deficiency, ALDH6A1-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS1402487087
Conflicting classifications of pathogenicity
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS140308322
Conflicting classifications of pathogenicity
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS375211888
Conflicting classifications of pathogenicity
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS61745707
Conflicting classifications of pathogenicity
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS752587472
Conflicting classifications of pathogenicity
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS367863044
Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS72552258
Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS775391997
Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS796065046
Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS869320672
Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
RS879255579
Pathogenic
Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111975186 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonate semialdehyde dehydrogenase deficiency, ALDH6A1-related disorder, Uterine corpus endometrial carcinoma |
| RS1402487087 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS140308322 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS375211888 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS61745707 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS752587472 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS367863044 | Health Risk | Pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS72552258 | Health Risk | Pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS775391997 | Health Risk | Pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS796065046 | Health Risk | Pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS869320672 | Health Risk | Pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |
| RS879255579 | Health Risk | Pathogenic | Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency |