SLC25A46 antibody - C-terminal region (ARP44095_P050)
- Known as:
- SLC25A46 (anti-) - C-terminal region (ARP44095_P050)
- Catalog number:
- arp44095_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- SLC25A46 antibody - C-terminal region (ARP44095_P050)
Related genes to: SLC25A46 antibody - C-terminal region (ARP44095_P050)
- 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 antibody - C-terminal region (ARP44095_P050)
Related articles to: SLC25A46 antibody - C-terminal region (ARP44095_P050)
- Microproteins represent a class of short polypeptides with very diverse cellular functions. Microproteins frequently escape proteomics-based identification, making the extent and potential functions of small proteins largely elusive. Some microproteins originate from transcripts that are annotated as long noncoding RNAs (lncRNAs). Here, we functionally characterize SMIM26, a microprotein localized to mitochondria. In biochemical and single-molecule tracking studies, we found that SMIM26 interacts with VDAC1/2 in the outer mitochondrial membrane and with SLC25A6 in the inner mitochondrial membrane. It spans the intermembrane space and is phosphorylated at distinct residues. Knockout cells are viable, but respiratory chain activity is strongly reduced. Interestingly, knockout mice are not viable and die at early developmental stages. Zebrafish homozygous mutants are viable but show reduced fitness and survival compared with their wild-type or heterozygous siblings. Consistent with the mitochondrial phenotype in cell lines, respiration is also reduced in homozygous zebrafish embryos. Our work suggests that SMIM26 coordinates metabolite transport through the inner and outer mitochondrial membranes and is essential for respiratory chain function in vivo. - Source: PubMed
Publication date: 2026/06/01
Heizler KevinChugunova AnastasiaHofmann MaraProchazkova MichaelaProcházka JanHo-Xuan HungFallmann JoergStejskal KarelKrssakova GabrielaBader StefanieKocak ErmanYasar DogukanLuckner PatriciaLehmann GerhardKöngeter JulianRiester MarisaRoitinger ElisabethWetzel ChristianDiederichs SvenSedlacek RadislavBruckmann AstridGebhardt J Christof MPauli AndreaMeister Gunter - 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