CA77.1
Human gene encoding the protein carbonic anhydrase 7
CA77.1
CA77.1 is a gene in humans that encodes the enzyme carbonic anhydrase 7 (CA VII). This enzyme is part of the larger family of carbonic anhydrases, which are zinc-containing metalloenzymes that catalyze the reversible hydration of carbon dioxide.
Function
Carbonic anhydrase 7 is primarily expressed in the central nervous system, particularly in the brain. It plays a crucial role in maintaining acid-base balance and facilitating the transport of carbon dioxide and bicarbonate between cells and their environment. This function is vital for various physiological processes, including respiration, pH regulation, and ion transport.
Structure
The CA VII enzyme is characterized by its high catalytic activity and is one of the most efficient carbonic anhydrases. The structure of CA VII includes a zinc ion at its active site, which is essential for its enzymatic activity. The enzyme's structure allows it to interact with various substrates and inhibitors, making it a target for drug development in conditions where carbonic anhydrase activity is dysregulated.
Clinical significance
Alterations in the expression or function of CA VII have been implicated in several neurological disorders. Due to its role in the central nervous system, CA VII is a potential target for therapeutic interventions in diseases such as epilepsy and neuropathic pain. Research is ongoing to develop specific inhibitors that can modulate the activity of CA VII for therapeutic purposes.
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Contributors: Prab R. Tumpati, MD