ABHD13
ABHD13: A Gene with Critical Roles in Neurological Function
Description
ABHD13 (Abhydrolase Domain Containing 13) is a gene that encodes a protein of the same name. This protein is an enzyme that plays a crucial role in the breakdown of phospholipids, which are essential components of cell membranes. ABHD13 is primarily expressed in the brain, particularly in the hippocampus, a region involved in memory and learning.
Associated Diseases
Mutations in the ABHD13 gene have been linked to several neurological disorders, including:
- Alzheimer's disease: ABHD13 mutations can disrupt phospholipid metabolism in the brain, leading to the accumulation of amyloid-beta plaques, which are a hallmark of the disease.
- Parkinson's disease: ABHD13 has been shown to be involved in the regulation of synaptic function, and mutations in the gene can lead to impairments in neuronal communication, a key factor in Parkinson's.
- Neurodevelopmental disorders: Mutations in ABHD13 have also been associated with autism spectrum disorder, schizophrenia, and intellectual disability.
Did you Know ?
Approximately 0.5% of the population carries a mutation in the ABHD13 gene. While some mutations are benign, others can increase the risk of developing neurological disorders.
