Entrez gene ID | | 57716 |
Official gene symbol | | PRX |
Full name | | periaxin |
Aliases | | ,CMT4F,KIAA1620, |
Gene 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] |
Location | | Chromosome: 19 Locus: 19q13.13-q13.2 |
Gene position | | 40919271 - 40899671 Map Viewer |
Gene orientation | | minus |
Gene size | | 19601 bp |
Gene sequence |
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OMIM ID | | 605725 |
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