AFG3L2

AFG3L2: A Key Player in Cellular Function and Disease

Description

AFG3L2 (Asparagine-linked Glycosylase 3 Leukocyte Associated Family Member 2) is a protein-coding gene that plays a crucial role in cellular maintenance and quality control. The AFG3L2 protein, also known as ATG4D, is a deamidase enzyme that removes asparagine-linked sugars from proteins, a process known as deamidation.

Associated Diseases

Dysregulation of AFG3L2 has been linked to several human diseases, including:

• Amyotrophic Lateral Sclerosis (ALS): Mutations in AFG3L2 have been identified in some cases of ALS, a fatal neurodegenerative disease characterized by progressive muscle weakness.
• Frontotemporal Dementia (FTD): AFG3L2 mutations have also been associated with FTD, a group of disorders that affect the frontal and temporal lobes of the brain.
• Autism Spectrum Disorder (ASD): Studies suggest a potential association between AFG3L2 variants and risk for ASD.
• Cancer: Aberrant AFG3L2 expression has been implicated in the development and progression of certain types of cancer, such as breast, lung, and colon cancer.

Did you Know ?

According to a recent study, a specific mutation in the AFG3L2 gene (rs121909070) is associated with a 1.5-fold increased risk of ALS.