Related Experiment Video
Updated: May 28, 2025

Metabolic Labeling of Leucine Rich Repeat Kinases 1 and 2 with Radioactive Phosphate
Published on: September 18, 2013
The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease
Larissa Ikelle1, Muayyad R Al-Ubaidi2, Muna I Naash3
1Department of Biomedical Engineering, University of Houston, Houston, TX, USA.
None:
PRPH2 is a glycosylated tetraspanin protein that plays a crucial role in outer segment morphogenesis. The protein induces membrane curvature at the rim and orchestrates proper disc elaboration by forming a complex network of homo- and hetero-oligomers, primarily mediated through its EC2/D2 loop. This loop, a functionally and structurally essential domain shared by all tetraspanins, is divided into two subdomains responsible for diverse interactions. Pathological mutations in the EC2/D2 loop account for nearly 70% of all PRPH2 mutations, resulting in a spectrum of heterogenous disease phenotypes. In this chapter, we provide an overview of the structural elements of the EC2/D2 loop of PRPH2 and explore the cellular and biochemical consequences of known mutations.
More Related Videos
Related Concept Videos
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Lysosomal Hydrolases
Covalently Linked Protein Regulators
These groups modify specific amino acids in a protein....
Leaky Scanning
Protein Kinases and Phosphatases
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Protein Folding Quality Check in the RER

