PDIA6

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Description

The PDIA6 (protein disulfide isomerase family A member 6) is a protein-coding gene located on chromosome 2.

PDIA6 may act as a chaperone, preventing misfolded proteins from clumping together. It also plays a role in regulating the unfolded protein response (UPR) by binding to UPR sensors like ERN1 and EIF2AK3, which helps to deactivate their signaling pathways. PDIA6 is involved in platelet aggregation and activation triggered by substances like convulxin, collagen, and thrombin.

PDIA6 is also known as ERP5, P5, TXNDC7.

Associated Diseases

• schizophrenia
• breast cancer
• pachyonychia congenita
• isolated agammaglobulinemia
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• common variable immunodeficiency
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• T-B+ severe combined immunodeficiency due to JAK3 deficiency
• immunodeficiency 72 with autoinflammation
• severe combined immunodeficiency due to IKK2 deficiency