Periaxin (PRX) ELISA Kit for Human

PRX: Seems to be required for maintenance of peripheral nerve myelin sheath. May have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane. May have a role in the early phases of myelin deposition. Defects in PRX are a cause of Dejerine-Sottas syndrome (DSS); also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Belongs to the periaxin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell surface

Cellular Component: cell junction; cytoplasm; cytosol; myelin sheath; nucleus; plasma membrane

Molecular Function: protein binding

Biological Process: axon ensheathment; myelin formation in the peripheral nervous system; myelin maintenance in the peripheral nervous system; nerve development; regulation of RNA splicing; sensory perception of pain; transmission of nerve impulse