External Ids for PRX Gene
Previous GeneCards Identifiers for PRX Gene
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]
GeneCards Summary for PRX Gene
PRX (Periaxin) is a Protein Coding gene. Diseases associated with PRX include charcot-marie-tooth disease, type 4f and charcot-marie-tooth neuropathy type 4f. An important paralog of this gene is AHNAK.
UniProtKB/Swiss-Prot for PRX Gene
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