SAMD9

Description

The SAMD9 gene, plays a crucial role in various cellular processes, including DNA repair, cell cycle regulation, and immune response. It encodes a protein with a SAM domain, which is involved in protein-protein interactions. Mutations in the SAMD9 gene have been linked to several genetic disorders, highlighting its importance in maintaining human health. Understanding the functions and intricacies of the SAMD9 gene is vital for developing effective diagnostic and therapeutic strategies for associated diseases.

Associated Diseases

• Diamond-Blackfan Anemia (DBA)
• Severe Congenital Neutropenia (SCN)
• Myelodysplastic Syndromes (MDS)
• Acute Myeloid Leukemia (AML)
• Developmental Delay
• Intellectual Disability

Did you know?

SAMD9 is a highly conserved gene, meaning its sequence is very similar across different species, indicating its fundamental importance in biological processes.