| UniProt Protein Function: | Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology. |
| NCBI Summary: | This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9BXM0 |
| NCBI GenInfo Identifier: | 13491172 |
| NCBI Gene ID: | 57716 |
| NCBI Accession: | NP_066007.1 |
| UniProt Secondary Accession: | Q9BXM0,Q9BXL9, Q9HCF2, |
| UniProt Related Accession: | Q9BXM0 |
| Molecular Weight: | 139,613 Da |
| NCBI Full Name: | periaxin isoform 1 |
| NCBI Synonym Full Names: | periaxin |
| NCBI Official Symbol: | PRX |
| NCBI Official Synonym Symbols: | CMT4F |
| NCBI Protein Information: | periaxin |
| UniProt Protein Name: | Periaxin |
| Protein Family: | Periaxin |
| UniProt Gene Name: | PRX |
