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.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.