A kind of mutant of caii and its application

Abstract

The present invention discloses a mutant of CAII and its application. The present invention finds a mutation at the 368th nucleotide by performing exon sequencing on patients with CAII deficiency syndrome, and the discovery of the mutation is CAII deficiency The diagnosis of the syndrome and the diagnosis and drug development of CAII-related diseases provide new means.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a mutant of CAII and its application. Background technique [0002] Carbonic anhydrases (CAs) are a class of zinc enzymes that catalyze the reversible reaction of carbon dioxide and water to bicarbonate and hydrogen ions. It exists widely in animals, plants and microorganisms and plays an important role in bioprocessing. Due to the properties of carbonic anhydrase, it is being widely used in applications such as biological detection, screening of natural active substances, biosensors, CO 2 Capture and physiological diagnosis and other fields. Carbonic anhydrase has different functions in various organs: HCO located in red blood cells in the lungs 3 - with H + combine to generate H 2 CO 3 , carbonic anhydrase I, carbonic anhydrase II accelerate H 2 CO 3 decomposes into CO 2 and H 2 Rate of O, CO 2 Enter the plasma by diffusion, in order to replenish the consumed HCO 3 - , ...

AI Technical Summary

Problems solved by technology

Splicing enhancers mainly exist in the exon region, so mutations in the coding region affect the encoded protein on the one hand, such as nonsense mutations or missense mutations, and on the other hand, may affect RNA splicing by changing the splicing regulatory sequence, resulting in more severe s consequence

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