Identity
HGNC
LOCATION
10q24.1
LOCUSID
ALIAS
ADCL3,ARCL3A,GSAS,P5CS,PYCS,SPG9,SPG9A,SPG9B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5832
MIM: 138250
HGNC: 9722
Ensembl: ENSG00000059573
Variants:
dbSNP: 5832
ClinVar: 5832
TCGA: ENSG00000059573
COSMIC: ALDH18A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000059573 | ENST00000371221 | P54886 |
| ENSG00000059573 | ENST00000371224 | P54886 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36067040 | 2023 | Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. | 5 |
| 37119015 | 2023 | Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families. | 0 |
| 36067040 | 2023 | Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. | 5 |
| 37119015 | 2023 | Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families. | 0 |
| 33573605 | 2021 | SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. | 1 |
| 33573605 | 2021 | SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. | 1 |
| 32017139 | 2020 | Δ(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. | 11 |
| 32075946 | 2020 | Inhibition of the ALDH18A1-MYCN positive feedback loop attenuates MYCN-amplified neuroblastoma growth. | 23 |
| 32017139 | 2020 | Δ(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. | 11 |
| 32075946 | 2020 | Inhibition of the ALDH18A1-MYCN positive feedback loop attenuates MYCN-amplified neuroblastoma growth. | 23 |
| 29915212 | 2018 | Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. | 10 |
| 29915212 | 2018 | Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. | 10 |
| 27989597 | 2017 | Comparative and evolutionary studies of ALDH18A1 genes and proteins. | 4 |
| 28228640 | 2017 | Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. | 3 |
| 27989597 | 2017 | Comparative and evolutionary studies of ALDH18A1 genes and proteins. | 4 |
Citation
Dessen P
ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60238/aldh18a1-(aldehyde-dehydrogenase-18-family-member-a1)
