Ask about this productRelated genes to: ALDH6A1 antibody
- Gene:
- ALDH6A1 NIH gene
- Name:
- aldehyde dehydrogenase 6 family member A1
- Previous symbol:
- MMSDH
- Synonyms:
- -
- Chromosome:
- 14q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-05-12
- Date modifiied:
- 2018-02-26
Related products to: ALDH6A1 antibody
Related articles to: ALDH6A1 antibody
- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDD; OMIM #614265) is an ultra-rare autosomal recessive metabolic disorder caused by mutations in the gene, characterized by multi-system involvement including skeletal abnormalities, hypotonia, and visual impairment. To elucidate its pathogenic mechanisms, we characterized ALDH6A1/Aldh6a1 conservation and function using complementary zebrafish and mouse experimental systems. Bioinformatic and phylogenetic analyses revealed strong conservation of gene structure, protein sequence, functional domains, and mitochondrial targeting across vertebrates. Spatiotemporal profiling also demonstrated dynamic embryonic expression in zebrafish neural tube, somites, liver, and intestine, as well as in metabolically active and developmentally relevant tissues of mice, with patterns that correspond to known MMSDD lesion sites in humans. Functional disruption of Aldh6a1 in zebrafish induced dose-dependent developmental defects, including spinal curvature, tail coiling, pericardial edema, and reduced survival, which were partially rescued by exogenous mRNA, confirming phenotype specificity effects. These findings support a role for ALDH6A1 in mitochondrial metabolism during neurogenesis, myogenesis, and organogenesis. Collectively, this cross-species framework highlights ALDH6A1/Aldh6a1 as essential for vertebrate development, provides mechanistic insight into the multi-system heterogeneity of MMSDD, and establishes a scalable platform for therapeutic discovery and precision intervention. - Source: PubMed
Publication date: 2026/08/08
Zhang YanpingYue XiaoqiaoXiong QiuhongLi PingWu Changxin - To investigate the mitochondrial dysfunction-related genes and their regulatory mechanisms involved in primary open angle glaucoma (POAG), which is characterized by retinal ganglion cell loss. - Source: PubMed
Publication date: 2026/08/18
Ouyang Zhi-KunGe LingYu Shi-TongLuo Jing-Yi - Metastasis in gastric cancer requires metabolic reprogramming, but its key drivers remain unclear. Using a CRISPR-Cas9 metabolic knockout screen integrated with patient transcriptomes, we identified the mitochondrial enzyme ALDH6A1 as an anti-invasive factor. down-regulation blocked the terminal step of valine catabolism and caused intracellular accumulation of methylmalonic acid (MMA). MMA competitively occupied the α-ketoglutarate (α-KG) cofactor pocket of the histone demethylase KDM5C, suppressing its activity and increasing H3K4 dimethylation (H3K4me2) at promoters of invasion-related genes, including (angiopoietin-2) and (matrix metalloproteinase 7). This epigenetic reprogramming promoted gastric cancer liver metastasis in mice. Pharmacologic ALDH6A1 activation with Alda-1 or systemic MMA clearance with l-carnitine lowered H3K4me2, dampened the invasive program, and reduced metastatic burden. These findings identify the ALDH6A1-MMA axis as a targetable metabolic-epigenetic pathway in gastric cancer metastasis. - Source: PubMed
Publication date: 2026/07/08
Wang JipengHan LeiLi GangGuo HantaoXu WenyueXia LianghuiNie MenghanYang QingLuo YinghaoWang YaxuHe QiumingJi Yan-XiaoXiong BinWang Shuyi - Hepatocellular carcinoma (HCC) is a heterogeneous malignancy with poor prognosis. This study identifies metabolism-related genes (MRGs) associated with HCC prognosis, develops a multi-gene prognostic model based on metabolic reprogramming and immune escape, and evaluates their roles in the tumor microenvironment (TME) to guide diagnosis and treatment. - Source: PubMed
Publication date: 2026/03/19
Cai ZihanHuang ChunxiaoYi XiaomeiDing ShoupengGao JinghuaHan Jian - Metabolic regulation is central to the tumor suppressor function of p53. By analyzing the human patients with autoimmune diseases, we found that p53 expression was significantly reduced in Treg cells, negatively correlating with abnormally elevated BCL-6 levels. p53 loss causes dysregulated immune homeostasis and dampens Treg function in vitro and in vivo. Mechanistically, p53 transcriptionally activates ALDH6A1 expression and propionyl-CoA anabolism to upregulate functional Treg gene expression via histone propionylation. Treg-specific knockout of ALDH6A1 phenocopies the autoimmune responses of p53 deficiency, and propionyl-CoA restoration largely recovers Treg cell function in mice lacking p53 or ALDH6A1. Clinically, impaired p53-ALDH6A1-histone propionylation signaling is observed in patients with autoimmune diseases and correlates with poor efficacy of first-line therapies. Together, these findings reveal a direct connection between propionyl-CoA metabolism and histone modifications, which is governed by p53 and is crucial for Treg cell function and immune tolerance suppression. - Source: PubMed
Publication date: 2026/03/15
Xie SiyiChen TaiqiLi LinfengTan ChunyuJiang Peng