Human Pyrroline-5-carboxylate Reductase 3, PYCRL ELISA Kit, 96T Organelle Studies Mutations in this gene cause

Mutations in this gene cause X-linked agammaglobulinemia type 1| which is an immunodeficiency characterized by the failure to produce mature B lymphocytes| and associated with a failure of Ig heavy chain rearrangement

Facilitates cell cycle exit during terminal muscle differentiation through the up-regulation of miR-20a expression

Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft

It is a secreted protein and exists in either a single chain form or a clipped

a small fraction of TNKS is found in the nucleus

Human Pyrroline-5-carboxylate Reductase 3, PYCRL ELISA Kit, 96T Organelle Studies Mutations in this gene cause