TIMM50

TIMM50 is a gene that encodes a protein involved in the import and insertion of certain proteins into the mitochondrial inner membrane. The protein is a component of the mitochondrial protein translocation complex TIM23 (translocase of the inner mitochondrial membrane 23) and plays a role in the recognition and translocation of mitochondria-encoded protein precursors.

Function

The TIMM50 gene encodes a component of the TIM23 inner mitochondrial membrane translocase complex. This complex is responsible for the translocation of nuclear-encoded proteins across the inner mitochondrial membrane, and for the insertion of some mitochondrial-encoded proteins into the inner membrane. The encoded protein is a receptor subunit that plays a role in recognizing mitochondrial targeting sequences, and also interacts with the other subunits of the complex.

Clinical significance

Mutations in the TIMM50 gene have been associated with various diseases. For example, a homozygous mutation in this gene has been identified in a patient with a complex neurological disorder characterized by early-onset epilepsy, developmental delay, and microcephaly.

See also

• Mitochondrial membrane transport protein
• Mitochondrial diseases

References

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