ALDH18A1 Chromosome 10
Aldehyde dehydrogenase 18 family member A1
Upload your DNA to see your personal genotypes for variants in ALDH18A1.
What This Gene Does
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
10q24.1
Ensembl
ENSG00000059573
Associated Conditions (24)
Cutis laxa
autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Hereditary spastic paraplegia 9A
ALDH18A1-related disorder
ALDH18A1-related de Barsy syndrome
Inborn genetic diseases
Hereditary spastic paraplegia
Autosomal recessive complex spastic paraplegia type 9B
Malignant lymphoma
large B-cell
diffuse
Abnormality of the nervous system
Colon adenocarcinoma
Hereditary spastic paraplegia 5A
Spondyloepiphyseal dysplasia
Stanescu type
Intellectual disability
Thyroid cancer
+4 more conditions
Key Variants
RS1202802893
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9
Health Risk
RS121434582
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
RS1230591674
Conflicting classifications of pathogenicity
Autosomal dominant spastic paraplegia type 9, de Barsy syndrome, Cutis laxa
Health Risk
RS139035272
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
RS143874727
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9
Health Risk
RS144816455
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa
Health Risk
RS145294634
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9
Health Risk
RS1462559161
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9
Health Risk
RS148601288
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa
Health Risk
RS150472102
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa
Health Risk
RS150526956
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
RS188362786
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS989031241 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Cutis laxa, autosomal dominant 3 |
| RS1055913716 | Health Risk | Likely pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS1057518541 | Health Risk | Likely pathogenic | — |
| RS1168868123 | Health Risk | Likely pathogenic | — |
| RS1292403369 | Health Risk | Likely pathogenic | Autosomal dominant spastic paraplegia type 9, de Barsy syndrome, Cutis laxa |
| RS1555264243 | Health Risk | Likely pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS1589534728 | Health Risk | Likely pathogenic | — |
| RS2139593958 | Health Risk | Likely pathogenic | de Barsy syndrome, Autosomal dominant spastic paraplegia type 9, Cutis laxa |
| RS2526671188 | Health Risk | Likely pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS2526899878 | Health Risk | Likely pathogenic | Cutis laxa, autosomal dominant 3, ALDH18A1-related de Barsy syndrome |
| RS367578361 | Health Risk | Likely pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS556267618 | Health Risk | Likely pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related disorder, Autosomal dominant spastic paraplegia type 9 |
| RS752669339 | Health Risk | Likely pathogenic | Autosomal recessive complex spastic paraplegia type 9B, Cutis laxa, autosomal dominant 3 |
| RS762154638 | Health Risk | Likely pathogenic | Autosomal recessive complex spastic paraplegia type 9B, Autosomal recessive complex spastic paraplegia type 9B |
| RS770249022 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS786205614 | Health Risk | Likely pathogenic | — |
| RS864321669 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 9A, P5CS deficiency, Hereditary spastic paraplegia 9A |
| RS1194593234 | Health Risk | Pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS121434583 | Health Risk | Pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS1325257479 | Health Risk | Pathogenic | Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9, Cutis laxa |
| RS145289559 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS1555262375 | Health Risk | Pathogenic | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS2097882117 | Health Risk | Pathogenic | — |
| RS2139621272 | Health Risk | Pathogenic | Hereditary spastic paraplegia 9A, Hereditary spastic paraplegia 9A |
| RS2139621988 | Health Risk | Pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS2526696945 | Health Risk | Pathogenic | de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS2526726489 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS2526727709 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS2526729059 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS2526811415 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS2526897392 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS2526900150 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS587777858 | Health Risk | Pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS758543218 | Health Risk | Pathogenic | Autosomal dominant spastic paraplegia type 9, de Barsy syndrome, Cutis laxa |
| RS863223315 | Health Risk | Pathogenic | ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome |
| RS863224945 | Health Risk | Pathogenic | Hereditary spastic paraplegia 9A, Autosomal dominant spastic paraplegia type 9, Cutis laxa |
| RS863225044 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A |
| RS863225045 | Health Risk | Pathogenic | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS864321670 | Health Risk | Pathogenic | Hereditary spastic paraplegia 9A, ALDH18A1 deficiency, de Barsy syndrome |
| RS869320690 | Health Risk | Pathogenic | Autosomal recessive complex spastic paraplegia type 9B, Autosomal recessive complex spastic paraplegia type 9B |
| RS1566039159 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2097844381 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive complex spastic paraplegia type 9B, Autosomal dominant spastic paraplegia type 9, de Barsy syndrome |
| RS748925635 | Health Risk | Pathogenic/Likely pathogenic | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS751181507 | Health Risk | Pathogenic/Likely pathogenic | ALDH18A1-related disorder, Autosomal dominant spastic paraplegia type 9, Cutis laxa |
| RS775201668 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Autosomal recessive complex spastic paraplegia type 9B, Hereditary spastic paraplegia |
| RS887933055 | Health Risk | Pathogenic/Likely pathogenic | — |