ELK Biotechnology AMPD3 rabbit pAb

제품명

AMPD3 rabbit pAb

제품 개요

AMPD3 단백질을 인식하는 토끼 폴리클로날 항체입니다. 이 단백질은 AMP 탈아미노효소 유전자 패밀리에 속하며, 아데노신 일인산(AMP)을 이노신 일인산(IMP)으로 전환하는 효소입니다. 적혈구(E) 형태의 아이소폼을 암호화하며, 변이는 적혈구 AMP 탈아미노효소 결핍증과 관련이 있습니다.

상세 정보

Background

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoform, while other family members encode isoforms predominant in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition known as erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. (RefSeq, Jul 2008)