PRX

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]

Description

Periaxin

Tissue specificity

Tissue enhanced (lung)

Subcell location

Golgi apparatus, Vesicles, Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (40393766 - 40414793)

Ensembl ID

ENSG00000105227  (ver. 103.38)

Orthologs

Mouse Prx: ENSMUSG00000053198

UniProt

Q9BXM0

neXtProt

NX_Q9BXM0

Human splice variants
Mouse splice variants

Protein structure