ERP44
Description
The ERP44 (endoplasmic reticulum protein 44) is a protein-coding gene located on chromosome 9.
ERp44, also known as thioredoxin domain-containing protein 4 (TXNDC4), is a protein that in humans is encoded by the ERP44 gene.
ERp44 mediates thiol-dependent retention of proteins in the early secretory pathway. It forms mixed disulfides with substrate proteins through its conserved CRFS motif. ERp44 inhibits the calcium channel activity of ITPR1. It may play a role in the control of oxidative protein folding in the endoplasmic reticulum. ERp44 is required to retain ERO1A and ERO1B in the endoplasmic reticulum. It forms mixed disulfides with both ERO1A and ERO1B and cargo folding intermediates; these interactions lead to their retention in the endoplasmic reticulum.
ERP44 is also known as PDIA10, TXNDC4.
Associated Diseases
- Griscelli syndrome type 3
- acral peeling skin syndrome
- trichodysplasia-xeroderma syndrome
- peeling skin syndrome type A
- keratosis palmoplantaris striata 2
- uncombable hair syndrome
- oculocutaneous albinism type 3
- peeling skin syndrome
- primary immunodeficiency syndrome due to p14 deficiency
- ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- woolly hair-skin fragility syndrome
