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used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH (show PRKCSH ELISA Kits) and SEC63 (show SEC63 ELISA Kits), to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8 (show ALG8 ELISA Kits), GANAB (show GANAB ELISA Kits), and SEC61B. Similarly to PRKCSH (show PRKCSH ELISA Kits) and SEC63 (show SEC63 ELISA Kits), these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
Sec61beta overexpression increased tight junction modulation rates, in conjunction with enhanced delivery of claudin-4 (show CLDN4 ELISA Kits) from and to plasma membranes.
Sec61beta-KD cells also exhibited altered ATP7A (show ATP7A ELISA Kits) cellular distribution.
Sec61beta function provides an alternative pathway for nuclear transport that can be utilized by membrane-embedded proteins such as full-length EGFR (show EGFR ELISA Kits).
This indicates that EGF (show EGF ELISA Kits) receptors are trafficked from the endoplasmic reticulum to the nucleus by a novel pathway that involves the Sec61 (show SEC61A1 ELISA Kits) translocon.
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript.
Sec61 complex, beta subunit
, protein translocation complex beta
, protein transport protein SEC61 beta subunit
, protein transport protein Sec61 subunit beta
, protein translocation complex beta subunit