Ask about this productRelated genes to: SLC25A46 Blocking Peptide
- Gene:
- SLC25A46 NIH gene
- Name:
- solute carrier family 25 member 46
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 5q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-09-21
- Date modifiied:
- 2019-04-23
Related products to: SLC25A46 Blocking Peptide
Related articles to: SLC25A46 Blocking Peptide
- The gene encodes a mitochondrial carrier protein previously implicated in neuropathy and optic atrophy. Biallelic variants in have been described in patients with Parkinson's disease (PD) with optic atrophy, but the evidence supporting a role in PD remains limited. - Source: PubMed
Publication date: 2026/02/01
Yu HanParlar Sitki CemSenkevich KonstantinSomerville Emma NZhang ZhaoLiu LangTeferra MeronAhmad JamilAsayesh FarnazRouleau Guy AGan-Or Ziv - Biallelic pathogenic variants in the gene are responsible for various neurological syndromes, including Charcot-Marie-Tooth disease type 6B, pontocerebellar hypoplasia type 1E, Leigh syndrome, progressive myoclonic ataxia and Parkinson's disease, most of them being associated with optic atrophy. We here report the case of a 26-year-old female patient with a slowly progressive and apparently isolated form of optic neuropathy due to the NM_138773.4:c.[327-2A > T];[410A > G] compound heterozygous variants in this gene. The presence of a subclinical peripheral neuropathy revealed by electroneuromyography confirmed the responsibility of these variants. The absence of functional and structural mitochondrial abnormalities in the patient's fibroblasts was consistent with the mild neurological phenotype. This case report suggests that gene merit consideration during genetic testing for both syndromic and isolated optic neuropathies. - Source: PubMed
Publication date: 2025/11/03
Reynier PascalAmati-Bonneau PatriziaDesquiret-Dumas ValérieFerré MarcGueguen NaïgPlouzennec SolennMichel MathieuChevrollier ArnaudPegat AntoineOrssaud Christophe - The coexistence of parkinsonism and peripheral neuropathy (PN) is more frequent than traditionally assumed and impacts patients' quality of life. Despite this, PN is often overlooked or misattributed to non-motor symptoms of Parkinson's disease (PD), resulting in missed diagnoses in clinical practice. - Source: PubMed
Publication date: 2026/01/06
Moreno-Lopez CristinaAntenucci PietroMoura JoãoBhatia Kailash P - Rare damaging variants in the SLC25A46 gene were recently reported to be associated with optic atrophy and parkinsonism in compound heterozygous state. Here, we comprehensively investigated the role of SLC25A46 variation in idiopathic Parkinson's disease (PD) by leveraging whole genome sequencing (WGS) and genotyping imputed data from the Global Parkinson's Genetics Program (GP2) and the Accelerating Medicines Partnership for Parkinson's disease initiative (AMP-PD). Our analyses included genotyping imputed data from 19,573 PD cases and 11,748 neurologically healthy controls of European, African Admixed, African, East Asian, Ashkenazi Jewish, Middle Eastern, Central Asian, and Latino and Indigenous people of the Americas ancestries from GP2. Additionally, we mined WGS data from 924 PD patients and 229 healthy controls, as well as 3359 PD cases and 4153 neurologically healthy controls of European ancestry from GP2 and AMP-PD, respectively. Burden analysis of rare non-synonymous variants across case-control individuals from WGS data did not find evidence of SLC25A46 association with PD. Of the four SLC25A46 variants observed, the p.K256R variant previously reported by Bitetto et al. was found in 1/3359 controls and 1/4153 cases of European ancestry but its association was not significant. In addition, we identified p.E79K/p.V211M in 1/3359 controls and 1/4153 cases, without confirmation of a putative compound heterozygosity effect due to the lack of phasing data. This variant was also identified in Admixed American/Latin American, African Admixed, Ashkenazi Jewish, and Central Asian ancestries. However, no significant enrichment in cases versus controls was observed. Our results do not support a major role for SLC25A46 in idiopathic PD in the European population or other ancestries, though our imputation results require cautious interpretation for ultra-rare variants. - Source: PubMed
Publication date: 2025/11/27
Schneider ZacharyLiu HuiDehestani MohammadMakarious Mary BCrea Peter WildBandres-Ciga SaraGasser ThomasKim Jonggeol J - Mitochondria are dynamic organelles shaped by sequential fission and fusion events. The mitochondrial protein SLC25A46 has been identified as a causative gene for mitochondrial neuropathies. However, the function of SLC25A46 in mitochondrial morphogenesis remains controversial, with several reports suggesting it acts as a mitochondrial fission factor, whereas others propose it as a fusion factor. In this study, employing forward genetics, we identified slc-25A46, a Caenorhabditis elegans ortholog of human SLC25A46, as an essential factor for mitochondrial fusion. Suppressor mutagenesis screening revealed loss-of-function mutations in drp-1, a mitochondrial fission factor, as suppressors of slc-25A46. The phenotype of slc-25A46 mutants is similar to that of mutants in the worm mitofusin ortholog fzo-1, wherein the mitochondrial fusion factor is disrupted. Overexpressing FZO-1 mitigated mitochondrial defects in slc-25a46 mutants, indicating that SLC-25A46 promotes fusion through FZO-1. Disease model worms carrying mutations associated with SLC25A46 exhibited mitochondrial fragmentation and accelerated neurodegeneration, suggesting that slc-25A46 maintains neuronal morphology through regulating mitochondrial fusion regulation. - Source: PubMed
Publication date: 2025/06/23
Obinata HiroyukiWatanabe TaiseiTakahashi HironoriShimo SatoshiOda ToshiyukiSugimoto AsakoNiwa Shinsuke