B9D1

Description

The B9D1 gene, also known as the ‘B9 domain containing 1‘ gene, plays a crucial role in cell division and development. It encodes a protein that interacts with other proteins involved in the regulation of the cell cycle, specifically the G2/M transition. This transition is a critical checkpoint where the cell ensures its DNA is properly replicated before entering mitosis. Mutations in the B9D1 gene can disrupt this process, leading to various developmental abnormalities and diseases.

Associated Diseases

• Microcephaly
• Intellectual disability
• Cerebral palsy
• Developmental delay
• Spinal muscular atrophy
• Cancer (some types)

Did you know?

The B9D1 gene is highly conserved across different species, suggesting its essential role in fundamental cellular processes.