LOC105375340 Variant X1: Impact on Protein Stability and Localization

LOC105375340 Variant X1: Impact on Protein Stability and Localization

LOC105375340 (LOC105375340 variant X1) is a protein that is expressed in various tissues of the body, including the brain, heart, kidneys, and liver. It is a member of the LOC105375340 family, which is characterized by the presence of a unique N- terminus and a conserved core structure.

LOC105375340 variant X1 is unique due to the presence of a specific amino acid substitution at its N-terminus. Instead of the typical amino acid Asp, variant X1 has a substitution of Asp for Asn, which is known as a missense mutation. This mutation has has been shown to have a significant impact on the function of the protein.

The missense mutation has led to a change in the stability and localization of the protein. In the wild-type protein, the N-terminus is involved in the formation of a protein-protein interaction (PPI) network, which is important for the protein's stability and localization to specific tissues. However, in the variant X1 protein, the N-terminus has been modified to contain an Asn residue, which is not involved in PPI formation.

This change in the N-terminus has affected the stability and localization of the protein. The variant X1 protein is less stable than the wild-type protein and has a reduced localization to specific tissues. Additionally, the missense mutation has led to a change in the conformation of the protein, which has implications for its function.

The impact of the missense mutation on the function of LOC105375340 variant X1 has been investigated using various cellular and biochemical assays. For example, cell-based assays have shown that the variant X1 protein is less stable than the wild-type protein and is not able to localize to specific tissues in a cell-to-cell co-expression assay. Additionally, biochemical assays have shown that the variant X1 protein is less stable than the wild-type protein and has a reduced ability to form a PPI network.

Despite these findings, the exact mechanism by which the missense mutation has affected the function of LOC105375340 variant X1 is not yet fully understood. However, it is known that the mutation has had a significant impact on the stability and localization of the protein.

In conclusion, LOC105375340 variant X1 is a unique protein that is characterized by a missense mutation. The mutation has had a significant impact on the stability and localization of the protein, and its function has been investigated using various cellular and biochemical assays. Further studies are needed to fully understand the implications of the missense mutation on the function of LOC105375340 variant X1.

Protein Name: Uncharacterized LOC105375340

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