PRX, Official Symbol PRXprovided by HGNC Official Full Name periaxinprovided by HGNC Primary source HGNC:HGNC:13797 See related Ensembl:ENSG00000105227 MIM:605725; AllianceGenome:HGNC:13797 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMT4F 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] Expression Broad expression in lung (RPKM 13.6), ovary (RPKM 2.9) and 16 other tissues See more Orthologs mouse all