FAM66A
FAM66A: A Gene with Impact on Health and Disease
Description
FAM66A (Family with Sequence Similarity 66 Member A) is a gene located on chromosome 19q13.42. It encodes a protein known as FAM66A, which is involved in various cellular processes, including protein trafficking, membrane organization, and cell signaling.
FAM66A Protein
FAM66A protein is predominantly found in the endoplasmic reticulum (ER), a cellular compartment responsible for protein synthesis, folding, and trafficking. It plays a vital role in maintaining the integrity and functionality of the ER membrane. Additionally, FAM66A has been implicated in regulating intracellular calcium homeostasis and cell growth.
Associated Diseases
Mutations or alterations in the FAM66A gene have been linked to several diseases and conditions, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a fatal neurodegenerative disease affecting motor neurons. Mutations in FAM66A have been associated with a rare form of familial ALS, known as ALS16.
- Frontotemporal Dementia (FTD): FTD is a group of neurodegenerative disorders characterized by behavioral and language disturbances. FAM66A mutations have been found in a small percentage of FTD cases.
- Parkinson‘s Disease: Parkinson‘s Disease is a neurodegenerative disorder affecting movement. Some studies have suggested a potential role for FAM66A in the development of Parkinson‘s-like symptoms.
- Cancer: FAM66A has been implicated in various cancer types, including breast cancer, prostate cancer, and lung cancer. Overexpression or loss of FAM66A has been associated with tumor growth, metastasis, and drug resistance.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide is estimated to carry a mutation in the FAM66A gene that is associated with ALS.
