SLC25A38 Antibody

1. report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications PMID: 28772256
2. the biochemical and molecular characterization of yeast Hem25p and human SLC25A38, providing evidence that they are mitochondrial carriers for glycine. In particular, the hem25Delta mutant manifests a defect in the biosynthesis of delta-aminolevulinic acid and displays reduced levels of downstream heme and mitochondrial cytochromes. PMID: 27476175
3. Appoptosin can interact with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology. PMID: 26813789
4. Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia PMID: 26821380
5. This study findings reveal a novel role for appoptosin in neurological disorders with tau neuropathology, linking caspase-3-mediated tau cleavage to synaptic dysfunction and behavioral/motor defects. PMID: 26335643
6. Letter/Case Report: novel frameshift mutation in SLC25A38 causing congenital sideroblastic anaemia. PMID: 25512395
7. Several missense mutations are found in SLC25A38 in a Chinese population with congenital sideroblastic anemia. PMID: 24323989
8. Our study identifies appoptosin as a crucial player in apoptosis and a novel pro-apoptotic protein involved in neuronal cell death. PMID: 23115192
9. Compares and contrasts all the known human SLC25A* genes and includes functional information. PMID: 23266187
10. Mutations in the SLC25A38 gene cause severe, non-syndromic, microcytic/hypochromic sideroblastic anemia in many populations. PMID: 21393332
11. Twelve CSA probands had biallelic mutations in SLC25A38 PMID: 19731322

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HGNC: 26054

OMIM: 205950

KEGG: hsa:54977

STRING: 9606.ENSP00000273158

UniGene: Hs.369615