Function
Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3. Mitochondria are impermeable to HCO3, and thus this intramitochondrial carbonic anhydrase is pivotal in providing HCO3 for multiple mitochondrial enzymes that catalyze the formation of essential metabolites of intermediary metabolism in the urea and Krebs cycles.
Biological Context
Subcellular Location: Mitochondrion
Disease Association: Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) : An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Carbonic anhydrase 5A, mitochondrial (CA5A) is a recombinant protein from Homo sapiens (Human), expressed in Mammalian cell, covering amino acids 39-305aa, with Tag-Free tag, molecular weight 30.6kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
