FAM49A
FAM49A: A Comprehensive Overview
Description
FAM49A (family with sequence similarity 49, member A) is a protein-coding gene located on chromosome 19p13.2. It encodes a protein that plays a crucial role in endoplasmic reticulum (ER)-associated degradation (ERAD), a cellular pathway responsible for removing misfolded or unfolded proteins from the ER.
FAM49A protein is a transmembrane protein that forms a complex with other proteins, including VIMP, SEL1L, and UBE2G2. This complex retrotranslocates misfolded proteins from the ER back into the cytoplasm, where they are subsequently ubiquitinated and targeted for degradation by the proteasome.
Associated Diseases
Mutations in the FAM49A gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurological disorder characterized by the degeneration of motor neurons in the spinal cord and brain. Mutations in FAM49A have been identified in a small percentage of ALS cases.
- Frontotemporal dementia (FTD): FTD is characterized by progressive degeneration of the frontal and temporal lobes of the brain, leading to changes in behavior and language. Mutations in FAM49A have been found in some FTD cases.
- Charcot-Marie-Tooth disease type 2Z (CMT2Z): CMT2Z is a type of hereditary neuropathy characterized by progressive weakness and wasting of the muscles in the arms and legs. Mutations in FAM49A have been associated with a subset of CMT2Z cases.
Did you Know ?
Mutations in FAM49A are thought to be among the most common genetic causes of ALS. In one study, approximately 2% of ALS patients were found to have mutations in the FAM49A gene.
