PPBI Polyclonal Antibody, 20ul Long RNA Synthesis Mutations in this gene are

Mutations in this gene are a cause of Treacher Collins syndrome (TCS)

It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts

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PPBI Polyclonal Antibody, 20ul Long RNA Synthesis Mutations in this gene areThere are at least four distinct but related alkaline phosphatases: intestinal, placental, placental like, and liver bone kidney (tissue non specific). The intestinal alkaline phosphatase gene encodes a digestive brush border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut.