Anti-SPG3A/ATL1 antibody [1F6B12]

Supplementary info

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

Activity summary

SPG3A also known as Atlastin-1 or ATL1 is a GTPase enzyme with a molecular mass of approximately 64 kDa. This protein is highly important in the mechanical process of membrane trafficking and the maintenance of the endoplasmic reticulum (ER) network. Atlastin-1 is expressed predominantly in neurons especially in the cerebral cortex and the hippocampus where it plays a role in neural function.

Biological function summary

Atlastin-1 is involved in the fusion of ER membranes contributing to the network's tubular structure. The protein facilitates the dimerization and fusion of ER membranes a function that is fundamental for creating a continuous and smooth ER network. While it does not form part of a large protein complex its role in membrane dynamics involves interaction with other proteins that maintain ER structure and function.

Pathways

Atlastin-1 participates in the ER and Golgi-related pathways essential for protein trafficking and cellular homeostasis. It has significant interactions in these pathways with proteins like REEP1 and spastin both of which assist in maintaining the dynamic structure of the ER. These interactions underline Atlastin-1's contribution to vesicle transport and membrane fusion processes.

Associated diseases and disorders

Mutations in the Atlastin-1 gene can lead to hereditary spastic paraplegia (HSP) a group of inherited disorders characterized by weakness and stiffness of the legs. This protein interacts in the context of HSP with proteins like spastin both of which are implicated in similar neuronal membrane dynamics disorders. Another condition linked to Atlastin-1 dysregulation is neuropathy where the protein's failure to maintain ER integrity can contribute to neuronal degradation.