FAST kinase domain-containing protein 2, mitochondrial (FASTKD2)

FASTKD2 is a mitochondrial RNA-binding protein required for proper processing of mitochondrial transcripts and assembly of the mitochondrial large ribosomal subunit. It interacts with specific mitochondrial RNAs—including 16S ribosomal RNA and ND6 messenger RNA—and is essential for the translation of mitochondrial-encoded proteins and maintenance of respiratory chain complexes. FASTKD2 deficiency causes aberrant RNA processing, impaired mitochondrial translation, and reduced cellular respiration, leading to mitochondrial encephalomyopathy and oxidative phosphorylation deficiencies. Mutations in FASTKD2 result in complex clinical syndromes, with tissue-specific effects that may be partially compensated by other mitochondrial proteins. FASTKD2 is a member of the FASTK family and is defined by several domains of unknown function, including possible RNA-binding motifs.

Other names

FASTKD2KIAA0971COXPD44FAST kinase domains 2FAST kinase domain-containing protein 2