Mitochondrial outer membrane protein SLC25A46

Definition:

Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization. May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing system) complex which is essential to the biogenesis and dynamics of mitochondrial cristae, the inwards folds of the inner mitochondrial membrane. Through its interaction with the EMC (endoplasmic reticulum membrane protein complex), could regulate mitochondrial lipid homeostasis and thereby mitochondrial fission.

References:

[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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