PRIMA1


Description

The PRIMA1 (proline rich membrane anchor 1) is a protein-coding gene located on chromosome 14.

PRIMA1, also known as Proline-rich membrane anchor 1, is a protein encoded by the PRIMA1 gene in humans. It functions to organize acetylcholinesterase (AChE) into tetramers and to anchor AChE at neural cell membranes. This is achieved through the proline-rich anchor domain (PRAD) of PRIMA1, which anchors the tetramer of AChE into the plasma membrane of neural cells and myocytes. The PRAD interacts with the C-terminal T-peptide of AChE. PRIMA1 plays a role in targeting AChE to the cell surface, and in neuroblastoma cells, PRIMA1 is the limiting factor for such targeting. In both mice and humans, PRIMA1 exists as two alternative splice variants that differ in their cytoplasmic regions.

PRIMA1 is essential for anchoring acetylcholinesterase (AChE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in the brain. It also plays a role in organizing AChE into tetramers.

PRIMA1 is also known as PRIMA.

Associated Diseases



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