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: 501
MIM: 107323
HGNC: 877
Ensembl: ENSG00000164904
Variants:
dbSNP: 501
ClinVar: 501
TCGA: ENSG00000164904
COSMIC: ALDH7A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38604394 | 2024 | Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1. | 0 |
| 38604394 | 2024 | Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1. | 0 |
| 35613852 | 2022 | The impact of ALDH7A1 variants in oral cancer development and prognosis. | 4 |
| 35613852 | 2022 | The impact of ALDH7A1 variants in oral cancer development and prognosis. | 4 |
| 32956737 | 2021 | Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function. | 5 |
| 34391775 | 2021 | EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1. | 0 |
| 32956737 | 2021 | Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function. | 5 |
| 34391775 | 2021 | EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1. | 0 |
| 31652343 | 2020 | Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. | 6 |
| 31930735 | 2020 | Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency. | 4 |
| 31652343 | 2020 | Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. | 6 |
| 31930735 | 2020 | Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency. | 4 |
| 30043187 | 2019 | The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. | 28 |
| 30767241 | 2019 | New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency. | 22 |
| 31492851 | 2019 | ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis. | 11 |
Citation
Dessen P
ALDH7A1 (aldehyde dehydrogenase 7 family member A1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47402/aldh7a1
