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PRX
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. Belongs to the periaxin family. Detected in spinal cord (PubMed:11133365). Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells (PubMed:11157804). 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Cell surface |
| Chromosomal Location of human Ortholog: 19q13.2 |
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Cellular Component:
anchoring junction; cytoplasm; nucleus; plasma membrane
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Molecular Function:
protein binding
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Biological Process:
axon ensheathment; peripheral nervous system myelin maintenance; regulation of RNA splicing
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Disease: Charcot-marie-tooth Disease, Demyelinating, Type 4f; Hypertrophic Neuropathy Of Dejerine-sottas
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Reference #:
Q9BXM0
(UniProtKB)
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Alt. Names/Synonyms: CMT4F; KIAA1620; Periaxin; PRAX; PRX
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Gene Symbols: PRX
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Molecular weight:
154,905 Da
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Basal Isoelectric point:
7.22
Predict pI for various phosphorylation states
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