ZFAND2B
Description
The ZFAND2B (zinc finger AN1-type containing 2B) is a protein-coding gene located on chromosome 2.
ZFAND2B plays a key role in protein homeostasis within the endoplasmic reticulum (ER). It regulates both the translocation and degradation of newly synthesized proteins through the ubiquitin-proteasome system. ZFAND2B controls the signal-mediated translocation of proteins into the ER and handles proteins that fail to translocate correctly. This function is likely related to ER stress-induced pre-emptive quality control, a mechanism that prevents misfolded proteins from entering the ER. Additionally, by regulating IGF1R expression, ZFAND2B indirectly influences the insulin-like growth factor receptor signaling pathway.
ZFAND2B is also known as AIRAPL.
Associated Diseases
- transient myeloproliferative syndrome
- neutrophil immunodeficiency syndrome
- immunodeficiency 69
- neutropenia, severe congenital, 1, autosomal dominant
- neutropenia, severe congenital, 2, autosomal dominant
- beta-thalassemia-X-linked thrombocytopenia syndrome
- nonimmune chronic idiopathic neutropenia of adults
- neutropenia-monocytopenia-deafness syndrome
- combined immunodeficiency due to ZAP70 deficiency
