DefinitionThis section has been translated automatically.
The ANXA11 gene (ANXA11 stands for Annexin A11) is a protein-coding gene located on chromosome 10q22.3. The ANXA11 gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins.
General informationThis section has been translated automatically.
Annexins have unique N-terminal domains and conserved C-terminal domains that contain calcium-dependent phospholipid binding sites. The encoded AnnexinA11 protein acts as an antigen recognized by sera from patients with various autoimmune diseases. It binds specifically to calcyclin in a calcium-dependent manner. Several transcript variants encoding two distinct isoforms have been identified.
Diseases associated with ANXA11 include amyotrophic lateral sclerosis (Nahm M et al. 2020). Associations with sarcoidosis have also been reported (Zhou H et al. 2016).
LiteratureThis section has been translated automatically.
- Nahm M et al (2020) ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics. Sci Transl Med 12:eaax3993.
- Zhou H et al. (2016) The Association between ANXA11 Gene Polymorphisms and Sarcoidosis: a Meta-Analysis and systematic review. Sarcoidosis Vasc Diffuse Lung Dis 33:102-11.
