Tetratricopeptide Repeat Domain Protein 19 (TTC19)

Ahomozygous nonsense mutation in the gene encoding tetratricopeptide 19 (TTC19) in individuals from two families affected by progressive encephalopathy associated with profound cIII deficiency and accumulation of cIII-specific assembly intermediates.A second homozygous nonsense mutation in a fourth affected individual. TTC19 is embedded in the inner mitochondrial membrane as part of two high–molecular‐weight complexes, one of which coincides with cIII.A physical interaction between TTC19 and cIII by coimmunoprecipitation.A Drosophila melanogaster knockout model for TTC19 that showed low fertility, adult-onset locomotor impairment and bang sensitivity, associated with cIII deficiency. TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies.