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PRX encodes a protein involved in peripheral nerve myelin upkeep. Additionally we are shipping Periaxin Antibodies (26) and Periaxin Kits (4) and many more products for this protein.
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Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis.
a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX (show PRDX6 Proteins) mutation, was shown.
Novel mutations in the PRX (show PRDX6 Proteins) and the MTMR2 (show MTMR2 Proteins) genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
In this review, periaxin protein is required for the maintenance of peripheral nerve myelin; however, patients with PRX (show PRDX6 Proteins) mutations have early-onset autosomal recessive demyelinating Charcot-Marie-Tooth disease or Dejerine-Sottas neuropathy.
Results indicate a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein.
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
S399fsX410 mutation in the PRX (show PRDX6 Proteins) gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onsetCharcot-Marie-Tooth type 4F disease.
A PRX (show PRDX6 Proteins) mutation in Japanese patients is presented.
Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss.
Thirty sequence variants have been found in the analysed genes from patients with Charcot-Marie-Tooth disorders: 5 pathogenic mutations in the GDAP1 (show GDAP1 Proteins) gene and 2 pathogenic mutations in the PRX (show PRDX6 Proteins) gene.
Taken together, these observations reveal that AnkB (show ANKH Proteins) is required for Prx membrane anchoring and for maintenance of lens fiber cell hexagonal geometry, membrane skeleton organization, and biomechanics.
Cajal band appositions contain a dystroglycan complex that includes periaxin and dystrophin-related protein (Drp)2.
Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers
dual mechanism for periaxin regulation and suggest that the role of Krox-20 (show EGR2 Proteins) is to amplify an earlier Krox-20 (show EGR2 Proteins)-independent activation of the periaxin genein schwann cells
Preterminal branching due to segmental demyelination near the neuromuscular synapse in Periaxin KO mice may underlie some characteristics of disabilities, including coordination deficits, present in this mouse model of CMT disease.
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.