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Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28.

Gene - 15 Dec 2021

Ji Yiming, Wang Shuping, Cheng Yiping, Fang Li, Zhao Jiajun, Gao Ling, Xu Chao

Abstract excerpt

BACKGROUND: Combined oxidative phosphorylation deficiency 28 (COXPD28) is associated with mitochondrial dysfunction caused by mutations in SLC25A26, the gene which encodes the mitochondrial S-adenosylmethionine carrier (SAMC) that responsible for the transport of S-adenosylmethionine (SAM) into the mitochondria. OBJECTIVE: To identify and characterize pathogenic variants of SLC25A26 in a Chinese pedigree, provide...

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PMID: 34375635
DOI: 10.1016/j.gene.2021.145891

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