Bayrak, HarunSezer, AbdullahDanış, AyşegülÖzhan, Selen HasYıldız, HarunKılıç, Mustafa2024-02-132024-02-132023Bayrak, H., Sezer, A., Danış, A., Özhan, S. H., Yıldız, H., & Kılıç, M. (2023). SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report. Acta Neurologica Belgica, 1-3.0300-90092240-2993http://dx.doi.org/10.1007/s13760-023-02305-yhttps://hdl.handle.net/20.500.12491/12014SERAC1 (Serine active site-containing 1, MIM: 614725) gene is located on chromosome 6q25.3. SERAC1 protein is a membrane protein containing 654 amino acids. It contains a serine lipase domain and belongs to the PGAG-like protein family, which plays a crucial role in mitochondrial function. SERAC1 protein has a role in intracellular cholesterol and phospholipid trafficking of action [1]. SERAC1 mutations as the cause of MEGD(H)EL syndrome (MIM: 614739) are an autosomal recessive mitochondrial disease associated with 3-methylglutaconic aciduria, dystonia, deafness, (hepatopathy), encephalopathy, with Leigh-like syndrome.eninfo:eu-repo/semantics/closedAccess3-MGAAlpha FetoproteinMEGDHELMitochondrial DiseasesSERAC1Article10.1007/s13760-023-02305-y13373068262-s2.0-85161688809Q2WOS:001007495700001Q3