Human AFG3L2 ELISA Kit (HUFI04643)

AFG3L2 (AFG3-like matrix AAA peptidase subunit 2) is a catalytic subunit of the mitochondrial m-AAA protease, an ATP-dependent metalloprotease embedded in the inner mitochondrial membrane that mediates protein quality control, processing of mitochondrial ribosomal subunits, and mitochondrial calcium homeostasis. Loss-of-function mutations in AFG3L2 cause autosomal dominant spinocerebellar ataxia type 28 (SCA28) and the recessive spastic ataxia-neuropathy syndrome SPAX5, with affected patients showing progressive cerebellar Purkinje cell loss, gait ataxia, and ophthalmoplegia. Investigators studying neurodegeneration, mitochondrial proteostasis, and cerebellar ataxia use this Assay Genie ELISA to quantify AFG3L2 levels in human serum or plasma specimens via a human-specific capture antibody. The microplate kit contains pre-coated wells, capture and detection antibodies, reconstituted standards, and chromogenic substrate; store unopened components refrigerated and protect the substrate vial from light. For research use only.