AIMP1

Description

The AIMP1 gene, also known as the mitochondrial translation initiation factor 1 (mtIF1) gene, is essential for the proper translation of mitochondrial proteins. These proteins play a crucial role in cellular energy production through oxidative phosphorylation. AIMP1 binds to the small ribosomal subunit and helps initiate protein synthesis within the mitochondria. Mutations in the AIMP1 gene can disrupt this process, leading to a range of mitochondrial disorders.

Associated Diseases

• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged-red fibers (MERRF)
• Leigh syndrome
• Kearns-Sayre syndrome
• Chronic progressive external ophthalmoplegia (CPEO)
• Diabetes mellitus
• Hearing loss
• Cardiomyopathy

Did you know?

AIMP1 is a highly conserved protein, meaning its structure and function are similar across many different species, highlighting its fundamental importance in cellular life.