ELK Biotechnology GALE rabbit pAb

ELK Biotechnology GALE rabbit pAb

제품 설명

GALE 단백질에 특이적인 rabbit polyclonal antibody입니다. Western blot(WB) 분석에 적합하며, 인간, 마우스, 랫트 시료에서 반응합니다. 이 항체는 인간 GALE 단백질의 104-154 아미노산 서열로부터 합성된 펩타이드를 면역원으로 사용하여 제작되었습니다.

제품 정보

Background

This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia (galactosemia type 3), a disease characterized by liver damage, early-onset cataracts, deafness, and mental retardation, with symptoms ranging from mild (peripheral form) to severe (generalized form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]