LOC388692
Loc388692: An Emerging Gene Linked to Neurodegenerative Disorders
Description
Loc388692 is a gene located on chromosome 19q13.32. It encodes a protein called ghrelin O-acyltransferase (GOAT), which is involved in the modification of the hormone ghrelin. Ghrelin is a peptide hormone produced primarily by the stomach and plays a role in appetite regulation and energy homeostasis.
Associated Diseases
Mutations in loc388692 have been associated with a spectrum of neurodegenerative disorders, including:
- Alzheimer's disease (AD): Loc388692 mutations have been linked to early-onset familial AD, with symptoms typically appearing in individuals under the age of 65.
- Frontotemporal dementia (FTD): Mutations in loc388692 are implicated in some cases of FTD, a disorder characterized by progressive degeneration of the frontal and temporal lobes of the brain.
- Parkinson's disease (PD): Although less common, loc388692 mutations have also been associated with PD, a neurodegenerative disorder affecting movement and coordination.
Did you Know ?
- Approximately 5-10% of early-onset AD cases are estimated to be attributed to mutations in loc388692.
