Anti-NSUN4 antibody

Supplementary info

Activity summary

NSUN4 also known as NOP2/Sun domain family member 4 is a methyltransferase enzyme that modifies RNA molecules by adding a methyl group to cytosine residues. It has a mass of approximately 55 kDa. NSUN4 is found in the mitochondria where it is expressed in various tissues especially in those with high energy demands such as muscle and nerve tissues. Its function is essential for mitochondrial ribosomal activity contributing to the proper synthesis of proteins within the mitochondrion.

Biological function summary

NSUN4 plays a role in mitochondrial translation by forming a complex with MTERF4. This complex is important for the methylation of mitochondrial rRNA which ensures the correct assembly and functionality of the mitochondrial ribosome. Through this modification NSUN4 influences the expression of the mitochondrial genome supporting efficient protein synthesis necessary for cellular energetics and function.

Pathways

NSUN4 integrates into mitochondrial biogenesis and gene expression pathways. It is significantly involved in the regulation of mitochondrial translation a subprocess of the broader mitochondrial translation pathway. NSUN4's activity closely interacts with proteins such as MTERF4 which assists in maintaining mitochondrial DNA transcription and replication illustrating its critical place in sustaining mitochondrial integrity and energy homeostasis.

Associated diseases and disorders

NSUN4 has implications in mitochondrial-related disorders particularly those affecting energy-dependent tissues. Dysfunction in NSUN4 can lead to challenges in mitochondrial bioenergetics contributing to conditions like mitochondrial myopathy and neurodegenerative diseases which can result from impaired mitochondrial translation. Additionally its interplay with MTERF4 suggests that disruptions in this protein complex might exacerbate conditions related to mitochondrial gene expression defects.