RBM28

Description

RBM28, also known as RNA-binding motif protein 28, plays a vital role in pre-mRNA splicing, a fundamental process in gene expression. It acts as a splicing factor, recognizing specific sequences within pre-mRNA and facilitating the removal of introns, non-coding regions within the gene. This intricate process ensures the correct formation of mature messenger RNA (mRNA), which carries genetic information to ribosomes for protein synthesis. RBM28‘s involvement in splicing is critical for maintaining cellular function and organismal development.

Associated Diseases

• Myelodysplastic syndromes (MDS)
• Acute myeloid leukemia (AML)
• Spinal muscular atrophy (SMA)
• Intellectual disability
• Autism spectrum disorder
• Retinitis pigmentosa
• Cardiomyopathy

Did you know?

Mutations in RBM28 can lead to a variety of human diseases, highlighting its importance in maintaining normal cellular function.