Gene: ALDH7A1
Alternate names for this Gene: ATQ1|EPD|PDE
Gene Summary: The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.
Gene is located in Chromosome: 5
Location in Chromosome : 5q23.2
Description of this Gene: aldehyde dehydrogenase 7 family member A1
Type of Gene: protein-coding
rs6898559 in
ALDH7A1 gene and
Calcification of coronary artery
PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.
rs6898559 in
ALDH7A1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.
rs368820286 in
ALDH7A1 gene and
Dysmorphic features
PMID 8913181 1996 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.
PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
PMID 19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
PMID 18762976 2009 Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
PMID 17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
PMID 16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.
PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
rs121912707 in
ALDH7A1 gene and
EPILEPSY, PYRIDOXINE-DEPENDENT
PMID 23022070 2012 Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
PMID 22784480 2012 Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
PMID 19128417 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
PMID 23054014 2013 Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
PMID 20370816 2010 Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
PMID 23430810 2013 Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.
PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
PMID 22371912 2012 Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
PMID 26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
PMID 26101365 2015 Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy.
PMID 18717709 2009 Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
PMID 26232297 2015 First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
PMID 27438048 2016 Pyridoxine-dependent epilepsy: report on three families with neuropathology.
PMID 24122892 2014 Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
PMID 17721876 2007 "An intriguing ""silent"" mutation and a founder effect in antiquitin (ALDH7A1)."
PMID 20814824 2010 The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
PMID 22529283 2012 Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
rs13182402 in
ALDH7A1 gene and
Lymphocyte Count measurement
PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.
rs368820286 in
ALDH7A1 gene and
Muscle hypotonia
PMID 17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
PMID 8913181 1996 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.
PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
PMID 18762976 2009 Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
PMID 19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
PMID 16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.
rs13182402 in
ALDH7A1 gene and
Osteoporosis
PMID 20072603 2010 Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
rs368820286 in
ALDH7A1 gene and
Overgrowth
PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
PMID 19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
PMID 18762976 2009 Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
PMID 17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
PMID 8913181 1996 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.
PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
PMID 16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.
rs121912707 in
ALDH7A1 gene and
Seizures
PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
PMID 19128417 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
PMID 20370816 2010 Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
PMID 22784480 2012 Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
PMID 22371912 2012 Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
PMID 29056246 2017 Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
PMID 26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.