ZRSR1

Ideogram human chromosome 5

ZRSR1

Zinc finger CCCH-type, RNA binding motif and serine/arginine rich 1 (ZRSR1) is a gene that encodes a protein involved in pre-mRNA splicing. This gene is located on chromosome 1 in humans and plays a crucial role in the regulation of gene expression.

Function

ZRSR1 is a member of the serine/arginine-rich (SR) protein family, which are essential splicing factors that modulate alternative splicing of pre-mRNA transcripts. ZRSR1 contains multiple zinc finger CCCH-type domains that are involved in RNA binding and splicing regulation. It interacts with other splicing factors to ensure proper splicing of mRNA molecules.

Clinical Significance

Mutations in the ZRSR1 gene have been associated with certain genetic disorders, including myelodysplastic syndromes and other hematological malignancies. Dysregulation of splicing factors like ZRSR1 can lead to aberrant splicing patterns and contribute to disease pathogenesis.

Role in Cancer

Aberrant expression of ZRSR1 has been observed in various types of cancer, suggesting its potential role in tumorigenesis. Studies have shown that dysregulation of splicing factors, including ZRSR1, can impact the splicing of oncogenes and tumor suppressor genes, thereby influencing cancer development and progression.

Research

Research on ZRSR1 continues to uncover its significance in splicing regulation and its implications in disease. Understanding the molecular mechanisms underlying ZRSR1 function may provide insights into novel therapeutic strategies for diseases associated with splicing defects.