EPG5 gene

ectopic P-granules autophagy protein 5 homolog

The EPG5 gene provides instructions for making a protein that is involved in a cellular process called autophagy. This process recycles worn-out or unnecessary cell parts and breaks down certain proteins when they are no longer needed. Autophagy also helps cells use materials most efficiently when energy demands are high. During autophagy, materials to be recycled or removed are isolated in compartments called autophagosomes. The autophagosomes are then transported to cell structures called lysosomes that break down the materials. The EPG5 protein is important for the interaction between autophagosomes and lysosomes that allows the transfer of materials.

In addition to its role in autophagy, the EPG5 protein aids in the cell's ability to recognize infection from foreign invaders such as bacteria and viruses. The protein transports molecules from these invaders within cells so they can interact with immune system proteins that trigger reactions to fight the infection.

At least 60 mutations in the EPG5 gene have been found to cause Vici syndrome, a severe condition that primarily affects the brain, immune system, heart, skin, and eyes. Most of these mutations lead to an abnormally short EPG5 protein that does not function. Without EPG5 protein activity, foreign invaders cannot trigger immune reactions, which leads to recurrent infections. In addition, autophagy is impaired. Researchers speculate that problems with autophagy disrupt the normal development and survival of cells in the brain and other organs and tissues that require large amounts of energy; however, they do not fully understand how the impairment leads to signs and symptoms of Vici syndrome.

Cytogenetic Location: 18q12.3-q21.1, which is the long (q) arm of chromosome 18 between positions 12.3 and 21.1

Molecular Location: base pairs 45,800,586 to 45,967,339 on chromosome 18 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 18q12.3-q21.1, which is the long (q) arm of chromosome 18 between positions 12.3 and 21.1
  • ectopic P granules protein 5 homolog
  • HEEW1
  • hEPG5
  • KIAA1632
  • VICIS