ANXA6
Description
The ANXA6 (annexin A6) is a protein-coding gene located on chromosome 5.
Annexin A6 is a protein encoded by the ANXA6 gene in humans. It belongs to a family of calcium-dependent membrane and phospholipid binding proteins involved in membrane-related events during exocytosis and endocytosis. The ANXA6 gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa with eight 68-amino acid repeats separated by linking sequences. It shares significant similarity with human annexins I and II, each containing four such repeats. Alternative splicing of exon 21 results in two isoforms differing by a 6-amino acid insertion. Annexin A6 is implicated in mediating endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. It has been shown to interact with RAS p21 protein activator 1.
Annexin A6 may interact with CD21 and potentially regulate the release of calcium ions (Ca2+) from intracellular stores.
ANXA6 is also known as ANX6, CBP68, CPB-II, p68, p70.
Associated Diseases
- breast cancer
- cancer
- achalasia-alacrima syndrome
- major depressive disorder
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
