EPPIN-WFDC6
EPPIN-WDFC6: The Ubiquitin Ligase Crucial for Neuronal Development
Description
EPPIN (epidermal growth factor-containing fibulin-like extracellular matrix protein 1) is a protein that plays a crucial role in neuronal development and synaptic function. It belongs to the family of ubiquitin ligases, enzymes that attach ubiquitin molecules to other proteins, marking them for degradation by the proteasome.
EPPIN's specific function is to ubiquitinate synaptic proteins, such as NMDA receptors and PSD-95. By regulating the turnover of these proteins, EPPIN ensures proper synaptic plasticity and signaling. It is highly expressed in the developing brain and continues to be present in the adult brain at lower levels.
Associated Diseases
Mutations in the EPPIN gene have been linked to several neurological disorders, including:
- Intellectual disability (ID): EPPIN mutations are a rare cause of ID, often accompanied by developmental delay and behavioral abnormalities.
- Epilepsy: EPPIN mutations can increase susceptibility to seizures, particularly in children.
- Autism spectrum disorder (ASD): EPPIN has been implicated in ASD, with studies suggesting that mutations or dysregulation of the gene may contribute to the neurodevelopmental symptoms.
- Schizophrenia: Some studies have found associations between EPPIN variants and an increased risk of schizophrenia.
Did you Know ?
In individuals with ID linked to EPPIN mutations, approximately 50% have a family history of ID or neurodevelopmental disorders. This suggests a strong genetic component in these conditions.
