Table 1. Autophagy-related genes that have been identified and implicated in various disease processes within the body.

The currently known roles/functions of each autophagy-related gene are listed, as well as the known pathological disorder.

Autophagy genes	Role/function	Tissue(s) with implicated genes	Reference(s)
LC3	LC3-I (cytosolic form) conjugates to phosphatidylethanolamine (PE) to form an LC3-II-PE complex on the surface of the expanding phagophore. Lipids are continually supplied until the autophagosomal membrane is a double-membraned enclosed structure.	- Neurodegenerative disease (Ex: amyotrophic lateral sclerosis) - Cancer (Ex: breast, ovarian, prostate, colorectal) - Renal (Ex: Fabry’s Disease) - Corneal endothelium (Fuchs endothelial corneal dystrophy) - Corneal stroma (Granular corneal dystrophy) - Congenital cataracts - Primary open angle glaucoma - Age-related macular degeneration - Pulmonary epithelia (Ex: Chronic obstructive pulmonary disease)	[10,13,85–95]
BECN1	Becn1 complexes with Vsp34-Atg14 to regulate and initiate formation of the nascent autophagosome (phagophore).	- Neurodegenerative disease (Ex: amyotrophic lateral sclerosis) - Cancer (Ex: breast, ovarian, prostate) - Corneal stroma (Granular corneal dystrophy) - Primary open angle glaucoma - Pulmonary epithelia (Ex: Chronic obstructive pulmonary disease)	[10,85,87,90,91,94,96]
Atg5	Atg7 activates Atg5 to conjugate with Atg12. The Atg12-Atg5 complex stimulates lipidation of LC3, which ultimately promotes extension and growth of the double-membraned phagophore to become an autophagosome.	- Neurodegenerative disease - Corneal endothelium (Fuchs endothelial corneal dystrophy) - Congenital cataracts - Primary open angle glaucoma - Age-related macular degeneration	[13,88,92,93,97,98]
DRAM1	DRAM1 is a part of the p53 tumor suppressor pathway that aids in autophagosome clearance through promotion of lysosomal acidification and upregulation of lysosomal enzymes.	- Corneal endothelium (Fuchs endothelial corneal dystrophy)	[13]
SQSTM1	Also known as p62, SQSTM1 is an autophagosomal membrane protein that selectively targets other proteins for autophagy. The protein is integral to autophagy of the mitochondria (mitophagy).	- Skeletal disease (Ex: Page’s Disease) - Prion disease	[99,100]
PRKN2	As part of a multiprotein E3 ubiquitin ligase complex, Prkn2 regulates the selective targeting of proteins for proteasomal degradation.	-Neurodegenerative disease (Ex: Parkinson’s disease)	[89,96,97]

(Atg: autophagy-related protein; BECN1: Beclin 1; DRAM1: DNA damage regulated autophagy modulator 1; LC3: microtubule associated protein 1 light chain 3 alpha; PE: phosphatidylethanolamine; PRKN2: E3 ubiquitin-protein ligase parkin; SQSTM1: sequestosome 1; Vsp34: vesicular protein sorting 34).