Ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.

ABSTRACT: Multifunctional proteins are challenging as it can be difficult to confirm pathomechanisms associated with disease-causing genetic variants. The human 17β-hydroxysteroid dehydrogenase 10 (HSD10) is a moonlighting enzyme with at least two structurally and catalytically unrelated functions. HSD10 disease was originally described as a disorder of isoleucine metabolism, but the clinical manifestations were subsequently shown to be linked to impaired mtDNA transcript processing due to deficient function of HSD10 in the mtRNase P complex. A surprisingly large number of other, mostly enzymatic and potentially clinically relevant functions have been attributed to HSD10. Recently, HSD10 was reported to exhibit phospholipase C-like activity towards cardiolipins (CL), important mitochondrial phosphol

SUBMITTER: Wohlfarter Y 

PROVIDER: S-EPMC9587951 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature