ERMP1
ERMP1: An Essential Gene with Diverse Functions
Description
Ermp1 is a large, multifaceted gene located on chromosome 12 in humans. It encodes a protein known as ERMP1, which plays a crucial role in various cellular processes, including:
- Cell proliferation and differentiation: ERMP1 helps regulate cell growth and division, ensuring proper tissue development and function.
- Cell adhesion and migration: ERMP1 facilitates the interaction between cells and their surrounding extracellular matrix, enabling cell movement and tissue remodeling.
- Axon guidance and synapse formation: ERMP1 is involved in the development of the nervous system, guiding axons to their appropriate targets and promoting synapse formation.
Associated Diseases
Mutations or disruptions in the ERMP1 gene have been linked to several diseases, including:
- Axonal Charcot-Marie-Tooth Disease Type 4F (CMT4F): A rare inherited disorder characterized by progressive muscle weakness and atrophy due to damage to peripheral nerves.
- Knobloch-Layer Syndrome: A rare genetic condition that affects the nervous system, leading to severe intellectual disability, seizures, and movement difficulties.
- Schizophrenia: A mental health disorder characterized by delusions, hallucinations, and impaired cognition. While the association between ERMP1 and schizophrenia is still being investigated, studies suggest a potential link.
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by CMT4F, making it one of the most common types of inherited peripheral nerve disorders.
