PRRT2

Description

The PRRT2 gene, encodes for a protein called proprotein convertase subtilisin/kexin type 2 (PCSK2). This protein is a crucial enzyme involved in the processing of various prohormones and neuropeptides in the brain and other tissues. PCSK2 plays a vital role in regulating the release of hormones like insulin and glucagon, as well as neurotransmitters like dopamine and serotonin. Mutations in the PRRT2 gene can disrupt this intricate process, leading to a range of neurological and endocrine disorders.

Associated Diseases

• Paroxysmal Kinesigenic Dyskinesia (PKD)
• Familial Hemiplegic Migraine (FHM)
• Early-Onset Parkinsonism
• Neurodevelopmental Disorders
• Hypogonadotropic Hypogonadism
• Hyperprolactinemia
• Insulin Resistance
• Type 2 Diabetes
• Obesity

Did you know?

Interestingly, PRRT2 gene mutations have been linked to both movement disorders (like PKD) and migraine headaches, suggesting a complex interplay between neuronal excitability and neurotransmitter signaling.