MZB1
Description
The MZB1 (marginal zone B and B1 cell specific protein) is a protein-coding gene located on chromosome 5.
MZB1 is a protein encoded by the MZB1 gene in humans. It is specifically found in marginal zone B and B1 cells.
MZB1 associates with immunoglobulin M (IgM) heavy and light chains, promoting IgM assembly and secretion. It may function as a molecular chaperone or an oxidoreductase due to its low oxidoreductase activity. Isoform 2 potentially regulates apoptosis. MZB1 diversifies peripheral B-cell functions by regulating calcium stores, antibody secretion, and integrin activation.
MZB1 is also known as MEDA-7, PACAP, pERp1.
Associated Diseases
- breast cancer
- severe congenital hypochromic anemia with ringed sideroblasts
- combined immunodeficiency with skin granulomas
- microcytic anemia with liver iron overload
- common variable immunodeficiency
- hemoglobin D disease
- hemochromatosis type 5
- hemoglobin E-beta-thalassemia syndrome
- neutropenia, severe congenital, 2, autosomal dominant
- 46,XX ovotesticular disorder of sex development
- immunodeficiency 18
- cryohydrocytosis
