Mitochondrial outer membrane protein SLC25A46
Definition:
References:
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[1]. Jijun Wan, et al. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Brain. 2016 Nov 1;139(11):2877-2890. [Content Brief]
[2]. Alexander J Abrams, et al. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. [Content Brief]
[3]. Alexandre Janer, et al. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. EMBO Mol Med. 2016 Sep 1;8(9):1019-38. [Content Brief]
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