SLC25A46 (Human) Recombinant Protein (P01)
- Known as:
- SLC25A46 (Human) Recombinant Protein (P01)
- Catalog number:
- H00091137-P01-10
- Product Quantity:
- 10 ug
- Category:
- -
- Supplier:
- Abno
- Gene target:
- SLC25A46 (Human) Recombinant Protein (P01)
Related genes to: SLC25A46 (Human) Recombinant Protein (P01)
- Gene:
- BZW2 NIH gene
- Name:
- basic leucine zipper and W2 domains 2
- Previous symbol:
- -
- Synonyms:
- HSPC028, MST017, MSTP017
- Chromosome:
- 7p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-08-05
- Date modifiied:
- 2016-10-05
- Gene:
- C2CD3 NIH gene
- Name:
- C2 calcium dependent domain containing 3
- Previous symbol:
- -
- Synonyms:
- DKFZP586P0123
- Chromosome:
- 11q13.4
- Locus Type:
- gene with protein product
- Date approved:
- 2007-10-17
- Date modifiied:
- 2016-06-08
- Gene:
- MBTD1 NIH gene
- Name:
- mbt domain containing 1
- Previous symbol:
- -
- Synonyms:
- SA49P01, FLJ20055
- Chromosome:
- 17q21.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-01-15
- Date modifiied:
- 2015-04-21
- 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
- Gene:
- TMEM63C NIH gene
- Name:
- transmembrane protein 63C
- Previous symbol:
- C14orf171
- Synonyms:
- DKFZp434P0111, CSC1, hsCSC1
- Chromosome:
- 14q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-10
- Date modifiied:
- 2017-10-17
Related products to: SLC25A46 (Human) Recombinant Protein (P01)
Related articles to: SLC25A46 (Human) Recombinant Protein (P01)
- Aging is the strongest risk factor for Alzheimer's disease (AD); however, some individuals age without major cognitive decline, suggesting that resilience and vulnerability may be associated with distinct molecular trajectories. To investigate these trajectories, we performed an integrated transcriptomic analysis of human dermal fibroblasts (GSE113957) and multi-region brain profiles (GSE48350), extending previous dataset-specific studies that focused primarily on age prediction, regional variation, or synaptic/immune signatures. Healthy aging and AD were compared within a novel antagonistic pleiotropy (AP) framework. This approach prioritized genes and candidate transcriptional regulators with opposing age and disease-associated expression patterns. Across tissues, healthy aging was associated with relative preservation of metabolic, mitochondrial, and lipid-homeostatic programs, whereas AD was associated with suppression of these programs alongside greater inflammatory and immune pathway activity. AP-Vulnerability genes (Age↓/AD↑), including TAC1, FREM3, and SLC25A46, declined with age but were induced in AD. Conversely, AP-Resilience genes (Age↑/AD↓), including PTH2, PPDPF, and NEFH, increased during healthy aging but were reduced in AD. Pathway analyses suggested an association between metabolic programs and resilience, and between immune activation and vulnerability. Transcription-factor inference prioritized PPARG, NFE2L2, and TEAD4 as candidate resilience-associated regulators, showing directionally opposite patterns relative to immune- and developmental-related regulators in AD. - Source: PubMed
Publication date: 2026/06/08
Salihoglu RanaCan ŞehnazDandekar ThomasBencurova Elena - 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