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PRX periaxin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_020956 Homo sapiens periaxin (PRX), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_181882 Homo sapiens periaxin (PRX), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005259111 PREDICTED: Homo sapiens periaxin (PRX), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol PRX
Entrez Gene ID 57716
Full Name periaxin
Synonyms CMT4F
General protein information
Preferred Names
periaxin
Names
periaxin
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.2

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].
Disorder

MIM: 605725

Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3);

mRNA Protein Product Sequence Price Select
NM_020956, 116686128 NP_066007, 13491172 periaxin isoform 1 ORF Sequence $150.00
NM_181882, 116686119 NP_870998, 116686120 periaxin isoform 2 ORF Sequence $1500.00
XM_005259111, 530416945 XP_005259168, 530416946 periaxin isoform X1 ORF Sequence $1500.00
Homo sapiens (human)PRXNP_870998.2
Pan troglodytes (chimpanzee)PRXXP_003953543.1
Macaca mulatta (Rhesus monkey)LOC702329XP_002808239.1
Canis lupus familiaris (dog)PRXXP_541615.4
Bos taurus (cattle)PRXXP_003587302.2
Mus musculus (house mouse)PrxNP_932165.2
Rattus norvegicus (Norway rat)PrxNP_076466.2
Process
IDNameEvidence
GO:0008219cell deathIEA
GO:0008366axon ensheathmentNAS
Component
IDNameEvidence
GO:0005575cellular_componentND
GO:0005634nucleusIEA
GO:0005737cytoplasmIEA
GO:0005886plasma membraneIEA
Function
IDNameEvidence
GO:0003674molecular_functionND
GO:0005515protein bindingIPI
GeneCards PRX
UniProt Q9BXM0
Vega OTTHUMG00000182597
MIM 605725
Ensembl ENSG00000105227
HGNC 13797
HPRD 05758

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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