FASTKD2

FASTKD2 is a gene encoding a protein belonging to the family of FAST kinase domains (FASTK). In humans, the FASTKD2 gene is located on chromosome 2 at the locus 2p16.1.

Function

FASTKD2 is a mitochondrial protein believed to be involved in mitochondrial RNA processing, specifically the stabilization of mature mitochondrial mRNAs. It contains a mitochondrial targeting sequence that directs it to the mitochondria, where it associates with mitochondrial ribosomes. Evidence suggests FASTKD2 plays a role in the regulation of mitochondrial translation and oxidative phosphorylation.

Clinical Significance

Mutations in the FASTKD2 gene are associated with mitochondrial encephalomyopathy, a severe neurological disorder characterized by developmental delay, intellectual disability, hypotonia, and other neurological and muscular problems. These mutations typically result in impaired mitochondrial function due to the disruption of mitochondrial RNA processing and translation. The severity of the symptoms varies depending on the specific mutation and its impact on protein function.

Structure

The FASTKD2 protein contains several domains, including a FAST kinase domain (FASTK) and several RAP domains (RNA-associated protein). The FASTK domain is similar to that found in kinases, but it is not believed to possess kinase activity itself. The RAP domains are thought to be involved in RNA binding. The precise three-dimensional structure of FASTKD2 remains largely unknown.

Further Research

Ongoing research is focused on understanding the precise mechanisms by which FASTKD2 regulates mitochondrial RNA processing and translation, as well as exploring potential therapeutic strategies for treating FASTKD2-related mitochondrial disorders. Investigating the interaction of FASTKD2 with other mitochondrial proteins and RNA molecules is crucial to understanding its functional role.