Involved in IRE1-mediated unfolded protein response. Located in sarcoplasmic reticulum. Used to study Parkinson's disease. Is an ortholog of human SPCS2 (signal peptidase complex subunit 2).
In elegans, hpo-21, orthologous to human SPCS1, is involved with several other hpo genes in the protective response against pore-forming toxins; hpo-21 has been shown to have a protective effect in an elegans model for alpha-synuclein (alpha-syn) toxicity (implicated in Parkinson''s disease, and other alpha-synucleinopathies); this model consists of overexpression of human alpha-syn fused to green fluorescent protein (GFP) in body wall muscle cells, resulting in age-dependent alpha-syn misfolding in the cytoplasm; co-expression of a chaperone, TOR-2, in this system reduces alpha-syn-GFP misfolding, providing a genetic background in which the enhancement of alpha-syn misfolding is easily visualized; hpo-21 was identified as a interactor of catp-6/ATP13A2; deficiency of catp-6/ATP13A2 and its interactors, including hpo-21, exacerbates alpha-syn misfolding in the above elegans model.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.