Signal Sequence Receptor, Delta (SSR4), also known as the delta subunit of the translocon-associated protein complex, plays a crucial role in the translocation of proteins across the endoplasmic reticulum (ER) membrane. This protein is essential for the proper functioning of cellular processes and is involved in various biological pathways.
The SSR4 gene encodes the delta subunit of the translocon-associated protein complex. This complex is responsible for the translocation of newly synthesized proteins across the ER membrane. The delta subunit, along with other subunits, forms a channel through which proteins can pass into the ER lumen. The SSR4 protein is located in the Xq28 region of the human genome and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene .
Recombinant human SSR4 is produced using recombinant DNA technology, which involves inserting the SSR4 gene into a suitable expression system, such as E. coli or HEK293 cells. The recombinant protein is then purified and used for various research applications. The recombinant human SSR4 protein typically includes a His-tag or other tags to facilitate purification and detection .
Recombinant human SSR4 is used in various research applications, including:
Mutations in the SSR4 gene can lead to various diseases, including congenital disorders of glycosylation (CDG). CDG is a group of inherited metabolic disorders that affect the glycosylation of proteins and lipids. Patients with SSR4 mutations may exhibit symptoms such as developmental delay, intellectual disability, and other systemic manifestations .