ERP44 is characterized by:
These structural features enable ERP44 to function as a pH-regulated chaperone, mediating thiol-dependent retention in the early secretory pathway . It forms mixed disulfides with substrate proteins through its conserved CRFS motif . Additionally, ERP44 inhibits the calcium channel activity of ITPR1 and is involved in the control of oxidative protein folding in the ER .
Mutations or dysregulation of ERP44 have been associated with diseases such as Multiple Sulfatase Deficiency and Amyotrophic Lateral Sclerosis 15 with or without Frontotemporal Dementia . Understanding the function and regulation of ERP44 can provide insights into these conditions and potential therapeutic targets.
Recombinant human ERP44 is typically expressed in HEK293 cells and is used for research purposes . It is supplied as a highly purified protein, often with a His tag for easy purification and detection . The recombinant protein retains the functional properties of the native protein, making it a valuable tool for studying ERP44’s role in cellular processes and disease mechanisms.
For more detailed information, you can refer to sources like GeneCards and UniProt.