Solute carrier family 25 member 46 (SLC25A46)

Solute carrier family 25 member 46 (SLC25A46) is a multi-pass transmembrane protein of the mitochondrial outer membrane and an orphan member of the SLC25 mitochondrial transporter family[2][3]. It is crucial for the regulation of mitochondrial fission and fusion, maintenance of cristae structure, and interorganellar lipid transfer, notably from the endoplasmic reticulum[2][1]. SLC25A46 interacts with core components of the fusion and MICOS machinery—including MFN2, OPA1, and mitofilin (IMMT)—to modulate mitochondrial architecture[3][4][1]. Pathogenic loss-of-function variants cause fragmentation or hyperfusion of mitochondria, shortened cristae, impaired respiration, premature cellular senescence, and significant neurological disease such as HMSN6B, Leigh syndrome, and Charcot-Marie-Tooth disease[2][4][1]. SLC25A46 does not have direct clinically approved drug modulators or antagonists in current use or research based on available information.

Other names

Mitochondrial outer membrane protein SLC25A46TB1HMSN6BPCH1ESolute carrier family 25 member 46