ABHD17C
ABHD17C: Decoding the Intriguing Gene Linked to Metabolism and Brain Function
Description
ABHD17C (abhydrolase domain containing 17C) is a gene that encodes an enzyme known as KIAA1363. This enzyme plays a crucial role in lipid metabolism, specifically the breakdown of fatty acid amides. Its primary function is to hydrolyze N-acyl phosphatidylethanolamine (NAPE), a lipid molecule abundant in the brain.
Associated Diseases
Dysregulation of ABHD17C has been implicated in several pathological conditions:
- Obesity: ABHD17C deficiency has been associated with increased body weight and obesity in both humans and animal models.
- Metabolic Syndrome: Individuals with variations in the ABHD17C gene have been found to have a higher risk of developing metabolic syndrome, which encompasses a cluster of conditions including obesity, hypertension, and elevated blood sugar levels.
- Neurodevelopmental Disorders: Mutations in ABHD17C have been linked to autism spectrum disorder (ASD) and epilepsy.
- Schizophrenia: Alterations in ABHD17C expression have been observed in individuals with schizophrenia, a complex mental health disorder.
Did you Know ?
Approximately 25% of individuals with severe obesity have genetic variations in the ABHD17C gene, highlighting its significant impact on weight management.
