Anti-SMN/Gemin 1 antibody [EPR25897-27] - BSA and Azide free (Detector)

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

SMN also known as Survival of Motor Neuron protein or Gemin 1 is an important protein involved in the assembly of small nuclear ribonucleoproteins (snRNPs). It has a molecular mass of approximately 38 kDa. SMN proteins are expressed in almost all tissues with highest levels in spinal cord and brain tissues. They play a mechanical role in Gemin complex assisting RNA processing tasks which are essential in RNA metabolism alongside other Gemin proteins.

Biological function summary

The SMN protein operates within the SMN-Gemin complex a multi-protein assembly important for snRNP biogenesis and pre-mRNA splicing. This complex coordinates the maturation and transport of snRNPs facilitating the processing of precursor mRNAs in the nucleus. SMN and associated Gemin proteins mediate the assembly of Sm proteins onto snRNA ensuring accurate splicing mechanisms necessary for gene expression.

Pathways

The SMN protein is notably involved in the chaperone-assisted assembly pathway related to snRNP biogenesis. It plays a central role in the spliceosome assembly process working closely with Sm proteins and other RNA-binding proteins. Importantly SMN interacts with the ribonucleoprotein complex influencing mRNA splicing which integrates into the broader cell signaling pathways such as the cholinergic agonist pathways and RNA splicing pathways that regulate neuromuscular communication.

Associated diseases and disorders

The deficiency or malfunction of SMN protein directly relates to Spinal Muscular Atrophy (SMA) an autosomal recessive disorder. SMA is characterized by motor neuron degeneration which can be attributed to insufficient SMN protein levels leading to compromised snRNP assembly and splicing. The SMN1 gene deletion or mutation reduces the available SMN protein linking this defect with the severity of SMA. Studies suggest that altering the expression levels of the related SMN2 gene can potentially modulate disease outcomes further emphasizing the connection between SMN protein and SMA pathogenesis.