LOC644145
Description
Loc644145 is a gene located on chromosome 6 in humans. It encodes a protein called N-myc downstream-regulated gene 2 (NDRG2). NDRG2 is a member of the NDRG family of proteins, which are characterized by their ability to bind to Rho GTPases and regulate their activity. Rho GTPases are key regulators of cell growth, differentiation, and migration.
NDRG2 is expressed in a variety of tissues, including the brain, heart, kidneys, and liver. It is particularly highly expressed in the brain, where it is thought to play a role in neuronal development and function.
Associated Diseases
Mutations in the loc644145 gene have been linked to a number of diseases, including:
- Charcot-Marie-Tooth disease type 4C (CMT4C): CMT4C is a rare inherited disorder that affects the nerves in the arms and legs. Symptoms typically begin in childhood or adolescence and include weakness, numbness, and tingling in the hands and feet. As the disease progresses, it can lead to muscle atrophy and difficulty walking.
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects the motor neurons in the brain and spinal cord. Symptoms typically begin in adulthood and include weakness, muscle atrophy, and difficulty speaking and swallowing.
- Parkinson's disease: Parkinson's disease is a neurodegenerative disorder that affects the dopamine-producing neurons in the brain. Symptoms typically begin in adulthood and include tremors, rigidity, and difficulty with movement.
Did you Know ?
Mutations in the loc644145 gene are estimated to account for approximately 1% of cases of CMT4C.
