HYOU1
Function
Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. May play a role as a molecular chaperone and participate in protein folding.
Involvement in disease
Immunodeficiency 59 and hypoglycemia
IMD59
An autosomal recessive primary immunologic disorder characterized by combined immunodeficiency, granulocytopenia, B-cell and dendritic cell deficiency, recurrent septic infections of the respiratory tract, skin and mucous membranes, and disturbed glucose metabolism.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the heat shock protein 70 family.
Tissue Specificity
Highly expressed in tissues that contain well-developed endoplasmic reticulum and synthesize large amounts of secretory proteins. Highly expressed in liver and pancreas and lower expression in brain and kidney. Also expressed in macrophages within aortic atherosclerotic plaques, and in breast cancers.
Cellular localization
- Endoplasmic reticulum lumen
Alternative names
GRP170, HSPH4, ORP150, HYOU1, Hypoxia up-regulated protein 1, 150 kDa oxygen-regulated protein, 170 kDa glucose-regulated protein, Heat shock protein family H member 4, ORP-150, GRP-170