ANXA13
Description
The ANXA13 (annexin A13) is a protein-coding gene located on chromosome 8.
Annexin A13 is a protein produced by the ANXA13 gene in humans. It belongs to the annexin family, which are known for their roles in regulating cell growth and signal transduction. Annexin A13 is specifically found in the plasma membranes of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. There are different forms of the protein, created through alternative splicing of the gene.
Isoform A binds to cell membranes in a calcium-dependent manner, preferentially attaching to areas enriched in phosphatidylserine or phosphatidylglycerol. This binding requires a relatively low concentration of calcium, with half-maximal binding occurring at approximately 60 micromolar. Importantly, isoform A does not bind to membranes lacking phospholipids with acidic headgroups.
ANXA13 is also known as ANX13, ISA.
Associated Diseases
- nonpapillary renal cell carcinoma
- major depressive disorder
- 46,XY complete gonadal dysgenesis
- familial male-limited precocious puberty
- 46,XX testicular disorder of sex development
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- partial chromosome Y deletion
- 46,XX ovotesticular disorder of sex development
