ATG12

Description

The ATG12 (autophagy related 12) is a protein-coding gene located on chromosome 5.

Autophagy related 12 is a protein that in humans is encoded by the ATG12 gene. Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998).[supplied by OMIM] Autophagy requires the covalent attachment of the protein Atg12 to ATG5 through a ubiquitin-like conjugation system. The Atg12-Atg5 conjugate then promotes the conjugation of ATG8 to the lipid phosphatidylethanolamine. Atg12 was found to be involved in apoptosis. This protein promotes apoptosis through an interaction with anti-apoptotic members of the Bcl-2 family.

ATG12, a ubiquitin-like protein, plays a crucial role in the formation of autophagy vesicles. Its conjugation with ATG5, facilitated by a ubiquitin-like conjugation system involving ATG7 (an E1-like activating enzyme) and ATG10 (an E2-like conjugating enzyme), is essential for its function. The resulting ATG12-ATG5 conjugate acts as an E3-like enzyme, promoting the lipidation of ATG8 family proteins and their association with vesicle membranes.

ATG12 is also known as APG12, APG12L, FBR93, HAPG12.

Associated Diseases

WES Whole Exome Sequencing