UNC13A

UNC13A is a gene that in humans is encoded by the UNC13A protein. It is located on chromosome 9 and is involved in the regulation of neurotransmitter release. The UNC13A gene is associated with several neurological disorders, including Amyotrophic lateral sclerosis (ALS) and Frontotemporal dementia (FTD).

Function

The UNC13A gene encodes a member of the UNC13 family, characterized by their role in the regulation of neurotransmitter release. The protein encoded by this gene is thought to play a key role in the priming and fusion of synaptic vesicles, which are critical steps in neurotransmission.

Clinical significance

Several studies have found an association between variations in the UNC13A gene and the risk of developing ALS and FTD. However, the exact role of UNC13A in these diseases is not fully understood. It is thought that the gene may influence the disease's progression and severity.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Variations in the UNC13A gene have been associated with an increased risk of developing ALS.

Frontotemporal dementia

Frontotemporal dementia (FTD) is a group of disorders characterized by progressive damage to the temporal and/or frontal lobes of the brain. Variations in the UNC13A gene have also been associated with an increased risk of developing FTD.

See also

• Neurotransmitter
• Synaptic vesicle
• Neurodegenerative diseases