DNAJC10
Description
The DNAJC10 (DnaJ heat shock protein family (Hsp40) member C10) is a protein-coding gene located on chromosome 2.
DnaJ homolog subfamily C member 10 is a protein that in humans is encoded by the DNAJC10 gene.
DNAJC10 is an endoplasmic reticulum disulfide reductase that plays a crucial role in both the correct folding of proteins and the degradation of misfolded proteins. It facilitates efficient protein folding in the endoplasmic reticulum by removing non-native disulfide bonds formed during the folding process, as seen with LDLR. DNAJC10 is also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. While its disulfide reductase activity doesn't require interaction with HSPA5, this interaction is necessary for DNAJC10 to be released from its substrate. Additionally, DNAJC10 promotes apoptotic signaling in response to endoplasmic reticulum stress.
DNAJC10 is also known as ERdj5, JPDI, MTHr, PDIA19.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin D disease
- gluthathione peroxidase deficiency
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- cholesterol-ester transfer protein deficiency
- primary familial polycythemia due to EPO receptor mutation
- dominant beta-thalassemia
- delta-beta-thalassemia
- hypertriglyceridemia 2
- hemoglobin E disease
- IRIDA syndrome
- alpha-thalassemia-myelodysplastic syndrome
- Rh deficiency syndrome
- hemoglobin C-beta-thalassemia syndrome
- sitosterolemia
