Sequence in raw or FASTA format:
PRX periaxin [Homo sapiens (human)]
|Entrez Gene ID||57716|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3);
|Homo sapiens (human)||PRX||NP_870998.2|
|Pan troglodytes (chimpanzee)||PRX||XP_003953543.1|
|Macaca mulatta (Rhesus monkey)||LOC702329||XP_002808239.1|
|Canis lupus familiaris (dog)||PRX||XP_541615.4|
|Bos taurus (cattle)||PRX||XP_003587302.2|
|Mus musculus (house mouse)||Prx||NP_932165.2|
|Rattus norvegicus (Norway rat)||Prx||NP_076466.2|
What is the normal function of the PRX gene?
The PRX gene provides instructions for making a protein called periaxin. Periaxin is required for the maintenance of myelin, the protective substance that covers nerves and promotes the efficient transmission of nerve impulses. The exact function of periaxin is unclear, but research suggests that it helps stabilize myelin.
The PRX gene produces two forms of periaxin, called long (L) and short (S) because they differ in size. Research studies show that the short form (S-periaxin) is distributed throughout the cytoplasm, the fluid inside cells. The long form (L-periaxin) is concentrated initially in the nucleus, then relocates to the cell membrane during the formation of myelin. L- and S-periaxin probably have slightly different functions, based on their different cell locations.
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