ANXA7
Description
The ANXA7 (annexin A7) is a protein-coding gene located on chromosome 10.
Annexin A7 is a protein encoded by the ANXA7 gene in humans. It belongs to the annexin family of calcium-dependent phospholipid binding proteins. The gene contains 14 exons and spans approximately 34 kb of DNA. Alternative splicing generates two mRNA transcripts, with a 2.0 kb transcript prevalent in brain, heart, and skeletal muscle. The transcripts also differ in their 3'-non coding regions due to alternative poly(A) signal usage. Annexin A7 encodes a protein with a molecular weight of approximately 51 kDa, featuring a unique, hydrophobic N-terminal domain and a conserved C-terminal region. Its structure suggests membrane binding capabilities with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity, and membrane fusion. ANXA7 has been shown to interact with ALG2 and SRI.
ANXA7 is also known as ANX7, SNX, SYNEXIN.
Associated Diseases
- cancer
- beta-thalassemia-X-linked thrombocytopenia syndrome
- thrombocytopenia 7
- hereditary chronic pancreatitis
- Miyoshi myopathy
- bleeding disorder, platelet-type, 24
- dehydrated hereditary stomatocytosis
- aneurysm, intracranial berry, 12
- hyperinsulinemic hypoglycemia, familial, 2
- GCGR-related hyperglucagonemia
- hyperinsulinism-hyperammonemia syndrome
- Glanzmann thrombasthenia 1
- cerebral amyloid angiopathy, APP-related
