SPEF2

Description

SPEF2 (Spermatogenesis-associated protein 2) is a gene located on chromosome 17q25.1. It encodes a protein that plays a crucial role in cellular stress response, apoptosis, and neuronal development. SPEF2 protein interacts with various other proteins involved in these processes, forming complexes that regulate cellular signaling pathways. Its function is essential for maintaining cell viability and promoting proper brain development. Mutations in the SPEF2 gene have been linked to several neurodevelopmental disorders, highlighting its importance in maintaining normal brain function.

Associated Diseases

• Intellectual disability
• Autism spectrum disorder
• Schizophrenia
• Epilepsy
• Cerebral palsy
• Spinal muscular atrophy

Did you know?

SPEF2 gene expression is highly regulated during spermatogenesis, suggesting its involvement in male fertility.