SLC25A46 Antibody

1. This study reported a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46. PMID: 28558379
2. This study identified of a homozygous missense mutation c.1022T>C and a homozygous genomic deletion involving exon 1 in SLC25A46 encoding a mitochondrial protein leading to lethal pontocerebellar hypoplasia with apnoea and profound weakness. PMID: 27543974
3. These results show that SLC25A46 plays a role in a mitochondrial/endoplasmic reticulum pathway that facilitates lipid transfer, and link altered mitochondrial dynamics to early-onset neurodegenerative disease and cell fate decisions. PMID: 27390132
4. SLC25A46 is selectively degraded from the outer membrane independently of mitophagy and apoptosis, providing a framework for mechanistic studies in the proteolysis of outer membrane proteins PMID: 28057766
5. we showed that the Slc25a46 disruption caused a fusion/fission imbalance and an abnormal mitochondrial architecture that disturbed mitochondrial metabolism. These data extended the range of phenotypes associated with Slc25a46 dysfunction. Moreover, this Slc25a46 knock-out mouse model should be useful to further elucidate the role of SLC25A46 in mitochondrial dynamics PMID: 28376083
6. Our mutant mice provide a valid model for understanding the mechanistic basis of the complex SLC25A46-mediated pathologies, as well as for screening potential therapeutic interventions. PMID: 28376086
7. The rs10056340 single nucleotide polymorphism was significantly associated with atopic dermatitis. PMID: 26464032
8. Data indicate four families with recessive mutations in solute carrier family 25 member 46 protein (SLC25A46). PMID: 26168012
9. Rs17132261 was associated with left ventricular hypertrophy in type 2 diabetic patients. PMID: 23879873

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HGNC: 25198

OMIM: 610826

KEGG: hsa:91137

STRING: 9606.ENSP00000348211

UniGene: Hs.75639