LUC7L3

From WikiMD's Wellness Encyclopedia

LUC7L3 (LUC7 Like 3, Pre-MRNA Splicing Factor) is a protein that in humans is encoded by the LUC7L3 gene. This protein is involved in the regulation of pre-mRNA splicing, a critical step in the post-transcriptional modification of RNA. The LUC7L3 gene is located on chromosome 17, and its function is essential for the proper processing of pre-mRNAs into mature mRNA molecules, which are then translated into proteins.

Function[edit | edit source]

The LUC7L3 protein plays a role in the splicing of pre-mRNA by being part of the spliceosomal complex. This complex is responsible for the removal of introns from pre-mRNA and the ligation of exons, resulting in the formation of mature mRNA. The exact mechanism by which LUC7L3 influences splicing is still under investigation, but it is believed to interact with other splicing factors and components of the spliceosome to ensure accurate splicing.

Clinical Significance[edit | edit source]

Alterations in the LUC7L3 gene or its protein product can lead to splicing errors, which in turn may result in the production of aberrant proteins. Such errors have been implicated in a variety of diseases, although the specific conditions associated with LUC7L3 mutations are still being explored. Research into the role of LUC7L3 in disease is ongoing, with the hope that understanding its function may lead to new therapeutic targets for conditions caused by splicing defects.

Genetic Information[edit | edit source]

The LUC7L3 gene is located on the q arm of chromosome 17 in humans. It consists of multiple exons and introns, the sequences of which are critical for its function in pre-mRNA splicing. The gene's expression is regulated by various transcription factors, and its protein product is expressed in numerous tissues, indicating its importance in the general process of gene expression.

Research Directions[edit | edit source]

Current research on LUC7L3 is focused on elucidating its precise role in the spliceosomal complex and identifying interacting partners that modulate its function. Studies are also aimed at understanding how mutations in LUC7L3 contribute to disease and whether these effects are due to changes in splicing efficiency or specificity. Further research into the LUC7L3 gene and its protein product may provide insights into the complex process of pre-mRNA splicing and its impact on human health.

See Also[edit | edit source]

References[edit | edit source]


Contributors: Prab R. Tumpati, MD