Carbonic anhydrase VA, mitochondrial pseudogene

Carbonic anhydrase VA, mitochondrial pseudogene (ENSG00000257639) is a human pseudogene closely related to the functional carbonic anhydrase VA (CA5A) gene[1][4]. While the canonical CA5A gene encodes a mitochondrial zinc metalloenzyme involved in key metabolic pathways such as the urea cycle and gluconeogenesis[5][3][6], the pseudogene itself does not produce a functional protein and does not possess enzymatic activity or therapeutic relevance[4]. As a pseudogene, it may share sequence similarity with CA5A but lacks biological function. Therefore, it is not considered a therapeutic target, receptor, enzyme, or relevant biomarker[4]. Key distinctions: - The entity described here should not be confused with the functional enzyme "carbonic anhydrase VA, mitochondrial" (CA5A), which is of significant biological and clinical importance[5][2][3][6]. - This pseudogene is often referenced in the context of genetic studies to avoid amplification interference when studying the functional CA5A gene[2]. If your interest lies with the functional mitochondrial carbonic anhydrase VA (CA5A), use that canonical name instead; the above record refers to a genomically inactive, non-protein-coding sequence.

Other names

mitochondrial carbonic anhydrase VA pseudogeneCA5A pseudogeneLOC646828