Periaxin

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OMIM Number

605725

NCBI Gene ID

57716

Uniprot ID

Q9BXM0

Length

20,955 bases

No. of Exons

9

No. of isoforms

3

Protein Name

Periaxin

Molecular Mass

154905 Da

Amino Acid Count

1461

Genomic Location

19:40,393,764-40,414,718

Gene Map Locus
19q13.1-q13.2

Description

The PRX gene encodes an important protein of the nervous system known as periaxin. This protein has been found to cluster the dystrophin-glycoprotein complex at the membrane of schwann cells, thus maintaining neuron-Schwann cell interaction and myelin sheath integrity.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_181882.2:c.1090C>TAlgeria; United Arab E...NC_000019.10:g.40397262G>APathogenicLikely Pathogenic, PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4F; Hypertrophic Neuropathy of Dejerine-SottasNG_007979.1:g.21103C>T; NM_181882.2:c.1090C>T; NP_870998.2:p.Arg364Ter144183238637398
NM_181882.2:c.586C>TLebanonNC_000019.10:g.40397766G>APathogenic, Uncertain SignificancePathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4FNG_007979.1:g.20599C>T; NM_181882.2:c.586C>T; NP_870998.2:p.Arg196Ter1048947064791
NM_181882.3:c.3099delEgyptNC_000019.10:g.40395253delUncertain SignificancePathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4FNG_007979.1:g.23112del; NM_181882.3:c.3099del; NP_870998.2:p.Glu1034ArgfsTer51599651707637394
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