• This protein belongs to the aldehyde dehydrogenase family of proteins. (nih.gov)
  • There is growing evidence that regions of the genome that cannot encode proteins play an important role in diseases. (biomedcentral.com)
  • The mammalian genome comprises nuclear DNA (nDNA) derived from both parents and mitochondrial DNA (mtDNA) that is maternally inherited and encodes essential proteins required for oxidative phosphorylation. (regenerativemedicine.net)
  • In addition, alcohol consumption can interact with the polymorphisms of ALDH2 and CYP2E1-RsaI genes to increase OSCC risk [ 12 ]. (biomedcentral.com)
  • Aldehyde dehydrogenase 3 family, member B1 also known as ALDH3B1 is an enzyme that in humans is encoded by the ALDH3B1 gene. (wikipedia.org)
  • Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. (nih.gov)
  • Sjögren-Larsson syndrome (SLS) is diagnosed by demonstrating the enzyme deficiency or by mutation analysis of the FALDH gene. (medscape.com)
  • Sjögren-Larsson syndrome (SLS) is due to deficient activity of fatty aldehyde dehydrogenase (FALDH), an enzyme required to oxidize fatty alcohol to fatty acid. (medscape.com)
  • The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. (wikipedia.org)
  • Human ALDH3B1 genome location and ALDH3B1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • Strategies Standard process approvals registrations and participant consent This research was conducted based on the Ethics Recommendations for Human being Genome/Gene Analysis Study and based on the Epidemiological Research endorsed by japan government. (cancer-pictures.org)
  • In contrast, free fatty aldehyde levels are not elevated. (medscape.com)
  • This syndrome is a result of mutations in the gene that codes for fatty aldehyde dehydrogenase. (medscape.com)
  • Accumulation of long-chain fatty alcohols and modification of macromolecules by an excess of fatty aldehydes are thought to be the pathophysiologic mechanisms causing the manifestations of Sjögren-Larsson syndrome. (medscape.com)
  • furthermore, compared with that in wild-type (WT) seedlings, the salt-induced expression of OsABA8ox1 , an ABA catabolic gene, in germinating Osbhlh035 mutant seeds is downregulated. (springeropen.com)
  • Aldehyde dehydrogenase 2 rs671 genetic polymorphisms are associated with chemotherapy-induced nausea and vomiting]. (nih.gov)
  • Two transcript variants encoding different isoforms have been found for this gene. (wikipedia.org)
  • Alternative splicing results in multiple transcript variants encoding distinct isoforms. (nih.gov)
  • Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. (nih.gov)
  • We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
  • A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. (nih.gov)
  • This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. (nih.gov)
  • The MYC proto-oncogene ( MYC ) is one of the most frequently overexpressed genes in breast cancer that drives cancer stem cell-like traits, resulting in aggressive disease progression and poor prognosis. (nature.com)
  • Tumor initiation and progression often involve the dysregulation of developmentally important genes in cancer cells, endowing them with stem cell-like features such as enhanced self-renewal, invasiveness, and an aberrant differentiation state [ 1 ]. (nature.com)
  • New sequencing technologies have shown that a large number of aberrantly expressed lncRNAs are associated with multiple cancer types and indicated they have emerged as an important class of pervasive genes during the development and progression of cancer. (biomedcentral.com)
  • To date, more than 70 different FALDH gene mutations have been found in patients with Sjögren-Larsson syndrome. (medscape.com)
  • Beyond mutations, the neurologic and other phenotypic characteristics may result from unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms. (medscape.com)
  • Most cases of Stickler syndrome are due to autosomal-dominant COL2A1 gene mutations leading to abnormal type II collagen. (mdpi.com)
  • Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)
  • Therefore, when plants are exposed to salt, the phytohormone ABA, TFs, and transporters act as key components that integrate cellular signal transduction and stress-responsive gene expression to confer salt tolerance. (springeropen.com)
  • The gene encodes a single transcript of 2.8 kb that is highly expressed in kidney and lung. (wikipedia.org)
  • The functional significance of this gene and the cellular localization of its product are presently unknown. (wikipedia.org)
  • These data show that epigenetic modifications associated with gene silencing are perturbed at ANCA autoantigenCencoding genes, potentially contributing to improper manifestation of and in ANCA individuals. (arcillaresearch.com)
  • Consists of a single exon and is characterized by a conserved C-terminal motif and N-terminal signal peptide. (or.jp)
  • is seen in single-exon genes, suggesting transcripts of these genes may have been programmed for rapid mRNA decay to compensate for the inefficiency of mRNA surveillance regulation on intronless genes. (cancer-pictures.org)
  • [ 53 ] To date, the genes associated with alcoholism fall into two broad categories, neurotransmission and alcohol-metabolizing enzymes. (medscape.com)
  • This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. (cancer-genetics.org)
  • These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. (cancer-genetics.org)
  • Fungal members of this superfamily that are characterised and relevant for lignocellulose degradation include aryl-alcohol oxidoreductase, alcohol oxidase, cellobiose dehydrogenase, glucose oxidase, glucose dehydrogenase, pyranose dehydrogenase, and pyranose oxidase, which together form family AA3 of the auxiliary activities in the CAZy database of carbohydrate-active enzymes. (biomedcentral.com)
  • Varying preferences for these electron acceptors separate GMC enzymes into oxidases (which can utilise O 2 as electron acceptor) and dehydrogenases (which show negligible or very low reactivity with O 2 ). (biomedcentral.com)
  • In this study, delivery vehicles comprised of microvesicles loaded with engineered minicircle (MC) DNA that encodes prodrug converting enzymes were developed as a cancer therapy in mammary carcinoma models. (regenerativemedicine.net)
  • Besides, as the study of poststroke epilepsy is deepened, some epileptogenic genes are associated with seizure susceptibility and are possibly involved in epileptogenesis [ 17 ]. (hindawi.com)
  • The deficiency in activity of aldehyde dehydrogenase-2 (ALDH2), commonly found in Asians, is due to a mutation at position 487 in exon 12, encoded by the ALDH2*2 allele, which is a crucial factor for deficient ability to acetaldehyde (AcH) oxidation. (nih.gov)
  • The clinical syndrome due to mismatch repair gene deficiency is known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and accounts for 2-5% of all colorectal cancer cases. (cdc.gov)
  • Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by infantile-onset hypotonia, developmental delay, cognitive impairment, expressive language deficit, and mild ataxia. (nih.gov)
  • [ 51 , 54 ] One of the earliest genome-wide scans, in an American Indian population, implicated linkage between alcohol dependence and a marker near the β1 GABA A subunit gene (GABRB1) on chromosome 4p. (medscape.com)
  • This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. (cancer-genetics.org)
  • Two transcript variants encoding different isoforms have been found for this gene. (wikipedia.org)
  • Using the large BXD family of recombinant inbred (RI) strains we demonstrate that variants in Ccnd1 - the gene encoding cyclin D1 - of the DBA/2 J parent underlie the resistance to 3-NP-induced striatal neurodegeneration. (bvsalud.org)
  • 3, 4, 5, 6, 7] It catalyzes the oxidation of medium- and long-chain fatty aldehydes to their corresponding carboxylic acids. (medscape.com)
  • Sjögren-Larsson syndrome is due to a genetic block in the oxidation of fatty alcohol to fatty acid because of deficient activity of FALDH, a component of the fatty alcohol:NAD oxidoreductase enzyme complex (FAO). (medscape.com)
  • Finally, we interpret our results from an evolutionary perspective, where we could show, for example, that pyranose dehydrogenase evolved from aryl-alcohol oxidoreductase after a change in substrate specificity and that the cytochrome domain of cellobiose dehydrogenase was regularly lost during evolution. (biomedcentral.com)
  • 72), including amino acid substitutions, small and large contiguous gene deletions, insertions, and splicing errors in this gene. (medscape.com)
  • In addition, deletions in mismatch repair genes appear to occur relatively commonly, particularly in hMSH2 . (cdc.gov)
  • [ 52 ] The identification of contributing genes has been assisted by the high prevalence of alcoholism facilitating assembly of large family cohorts and population datasets. (medscape.com)
  • [ 55 ] The initial U.S. National Institute on Alcohol and Alcoholism (NIAAA) Collaborative Study on the Genetics of Alcoholism (COGA) studies also demonstrated a broad linkage peak, which included the same region. (medscape.com)
  • Despite community education programs on the consequences of harmful drinking, only about 15 percent of those who have an AUD seek treatment, citing reasons that include social stigma, expense, skepticism about treatment efficacy, lack of knowledge on available treatment options, and lack of treatment facilities (National Institute of Alcohol Abuse and Alcoholism 2014). (nih.gov)
  • p53 tumor suppressor gene: at the crossroads of molecular carcinogenesis, molecular epidemiology, and cancer risk assessment. (nih.gov)
  • Carcinogenesis is a multistage process involving the inappropriate activation of normal cellular genes to become oncogenes, e.g., ras, and the inactivation of other cellular genes called tumor suppressor genes. (nih.gov)
  • p53 is the prototypic tumor suppressor gene that is well suited as a molecular link between the causes of cancer, i.e., carcinogenic chemical and physical agents and certain viruses, and the development of clinical cancer. (nih.gov)
  • The p53 tumor suppressor gene is mutated in the majority of human cancers. (nih.gov)
  • In vivo evaluation of the bystander effect in mouse models demonstrated that for effective therapy, at least 1% of tumor cells need to be delivered with TK-NTR-encoding MCs. (regenerativemedicine.net)
  • These results suggest that MC delivery via microvesicles can mediate gene transfer to an extent that enables effective prodrug conversion and tumor cell death such that it comprises a promising approach to cancer therapy. (regenerativemedicine.net)
  • Genetic association analyses have revealed several polymorphisms-small differences in DNA-that increase a person's vulnerability to develop AUD and other alcohol-related intermediate characteristics, such as severity of drinking, age of AUD onset, or measures of craving. (nih.gov)
  • The ALDH10 gene consists of 11 exons and is widely expressed in tissues. (medscape.com)
  • Furthermore, we developed a real-time RT-PCR method to detect and quantitate the ALDH2 mRNA levels in easily accessible peripheral blood leukocytes (PBLs) to examine whether this promoter mutation affects on the amount of ALDH2 mRNA in normal human tissue at pre- and post-alcohol ingestion phase in ALDH2*1/*1 subjects. (nih.gov)
  • In addition to this locus, polymorphism in -361 G/A mutation of this gene at 5'flanking region, commonly found in multi-racial populations, is one of the suggestive polymorphisms which may affect on the enzyme activity because it has been reported to affect on the transcriptional activity in hepatoma cells. (nih.gov)
  • These data show that epigenetic modifications associated with gene silencing are perturbed at ANCA autoantigenCencoding genes, potentially contributing to improper manifestation of and in ANCA individuals. (arcillaresearch.com)
  • Alcohol use disorder (AUD) is a chronic heritable brain disorder with a variable clinical presentation. (nih.gov)
  • The functional significance of this gene and the cellular localization of its product are presently unknown. (wikipedia.org)
  • [ 51 , 52 ] Addiction is a complex polygenic disease trait that does not exhibit classical Mendelian inheritance patterns, but instead develops in a permissive environment when functional variation in multiple genes act in concert to influence an individual's vulnerability. (medscape.com)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancer-genetics.org)
  • Aldehyde dehydrogenase 3 family, member B1 also known as ALDH3B1 is an enzyme that in humans is encoded by the ALDH3B1 gene. (wikipedia.org)
  • putative laccase, a member of laccase family of genes (17 members in Arabidopsis). (or.jp)
  • A variant ALDH3A2 gene coded for FALDH and products regulating pathogenic melanogenesis may account for associated hyperpigmentation with this syndrome. (medscape.com)
  • This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. (cancer-genetics.org)
  • Alcohol Addiction/Consumption Alcohol use disorders (including dependence and abuse) are common, chronic relapsing conditions with a 12-month prevalence of 8.5% in the United States. (medscape.com)
  • The glucose-methanol-choline (GMC) superfamily of oxidoreductases was defined by Cavener in 1992 based on sequence similarities of Drosophila melanogaster glucose dehydrogenase, Escherichia coli choline dehydrogenase, Aspergillus niger glucose oxidase, and Hansenula polymorpha methanol (alcohol) oxidase [ 12 ]. (biomedcentral.com)
  • Probe Set ID Ref Seq Protein ID Signal Strength Name Gene Symbol Species Function Swiss-Prot ID Amino Acid Sequence 1367452_at NP_598278 7.9 small ubiquitin-related modifier 2 precursor Sumo2 Rattus norvegicus " Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. (nih.gov)
  • Therefore, the present study was concerned with the investigation of an eventual association between glioma and I/D polymorphism of the ACE gene. (cancer-genetics.org)
  • The expression of ACE gene was detected by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis in 36 Algerian patients with glioma and 195 healthy controls. (cancer-genetics.org)
  • Several convergent lines of evidence indicate that the primary central nervous system inhibitory neurotransmitter γ-aminobutyric acid (GABA) is involved in determining alcohol preference and has an influence on the behavioral effects of alcohol consumption and withdrawal. (medscape.com)
  • Evidence to support a role for the mismatch repair genes hMLH1 and hMSH2 in the etiology of colorectal cancer has come from linkage analysis, segregation studies, and molecular-biologic analysis. (cdc.gov)
  • Despite being unicellular organisms, all species only harbor a set of 45 non-redundant, nuclear-encoded tRNA isoacceptors, and there is no correlation between tRNA gene copy numbers and codon usages. (cancer-pictures.org)
  • Click Gene ID to show a list of GSM assays in which the gene are specifically expressed. (or.jp)
  • Genetic analysis of human cancer is providing clues to the etiology of these diverse tumors and to the functions of the p53 gene. (nih.gov)
  • What does this gene/protein do? (cancer-genetics.org)
  • What pathways are this gene/protein implicaed in? (cancer-genetics.org)
  • Microvesicles loaded with MCs encoding a thymidine kinase (TK)/nitroreductase (NTR) fusion protein produced prolonged TK-NTR expression in mammary carcinoma cells. (regenerativemedicine.net)
  • The gene encoding FALDH is called the ALDH3A2 gene (or ALDH10) and has been mapped to the Sjögren-Larsson syndrome locus on band 17p11.2. (medscape.com)
  • Despite decades of research on various methods for treating alcohol use disorder (AUD), AUD remains prevalent throughout the world, making it critical to develop a more comprehensive approach to address the issue. (nih.gov)
  • To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. (nih.gov)
  • The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion. (nih.gov)
  • 3-nitropropionic acid (3-NP) is a naturally occurring plant and fungal neurotoxin that causes neurodegeneration predominantly in the striatum by irreversibly inhibiting the tricarboxylic acid respiratory chain enzyme, succinate dehydrogenase (SDH), the main constituent of the mitochondria respiratory chain complex II. (bvsalud.org)
  • However, it is generally accepted that candidate gene association studies and GWASs have identified only a fraction of the genes relevant to any given disease and so many contributing genes remain to be discovered. (medscape.com)
  • We found that genipin crosslinks the extracellular matrix, increases the stiffness of the ECM, reorganizes the actin cytoskeleton, and promotes transcription of YAP-dependent genes. (bvsalud.org)
  • In geographic areas where hepatitis B virus and a dietary chemical carcinogen, aflatoxin B1, are risk factors of liver cancer, a molecular signature of the chemical carcinogen is found in the mutated p53 gene. (nih.gov)
  • A different molecular signature in the p53 gene is found in skin cancer caused by sunlight. (nih.gov)
  • 3000 individuals) refined the regional association to the GABRA2 gene. (medscape.com)
  • The discovery of genes responsible for inherited colorectal cancer syndromes has been important in identifying important etiologic pathways such as the beta-catenin/ APC and TGF beta/SMAD pathways. (cdc.gov)
  • Angiotensin-converting enzyme insertion/deletion gene polymorphisms and the risk of glioma in an Algerian population. (cancer-genetics.org)
  • Many individuals who drink are able to consume small amounts of alcohol without progressing into heavy drinking that often leads to AUD. (nih.gov)
  • G/G). Under the condition with 0.4 g/kg body weight of alcohol ingestion, significant differences in AcH peak levels, that reached at 30 or 60 minutes in most subjects, was not detected between promoter A+ and A- groups both in exon 12 ALDH2*1/*1 and ALDH2*1/*2 subjects. (nih.gov)
  • The project will recruit 10,000 youths before they begin using alcohol, marijuana, tobacco, and other drugs, and will follow them over ten years into early adulthood. (nih.gov)
  • When considering genetic modifiers of ALD and NAFLD, one should first consider those genes that influence etiologic factors causally linked to the disease. (medscape.com)