ANTI-CHOLINE ACETYLTRANSFERASE

Использование

All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry.

The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit .

Общее описание

Choline O-acetyltransferase (CHAT) gene is mapped to human chromosome 10q11.23. It has a choline binding domain pocket and a catalytic domain.

Биохимия/физиол Действия

Choline O-acetyltransferase (CHAT) enzyme mediates the synthesis of neurotransmitter, acetylcholine from choline and acetyl-CoA in cholinergic neurons. Phosphorylation at serine and threonine residues is critical for the function of CHAT. Mutations in the active site residues, results in loss of enzyme activity. Deletion in CHAT gene locus impacts neuromuscular signal transmission contributing to muscle weakness in congenital myasthenic syndromes. A mutation in the CHAT gene leads to choline acetyltransferase deficiency and triggers recurrent breathlessness in infants. Polymorphisms in CHAT is implicated in Alzheimer′s disease.