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periaxin (PRX, KIAA1620)
Function:
1) required for maintenance of peripheral nerve myelin sheath (putative)
2) role in axon-glial interactions
3) may interact with cytoplasmic domains of integral membrane proteins i.e. myelin-associated glycoprotein in periaxonal regions of the Schwann cell plasma membrane
4) role in the early phases of myelin deposition (putative)
5) interacts with SCN10A; found in a complex with SCN10A
Structure:
- belongs to the periaxin family
- contains 1 PDZ (DHR) domain
- domain of repetitive pentameric units sometimes followed by a tripeptide spacer may separate two functional basic & acidic domains
- Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.
Compartment:
- nucleus
- isoform 1: cell membrane associated with plasma membrane during myelination
- isoform 2: cytoplasm
Alternative splicing: named isoforms=3
Expression:
- isoform 1 & 2 are found in sciatic nerve & Schwann cells
Pathology:
- defects in PRX are a cause of autosomal recessive Dejerine-Sottas syndrome
- defects in PRX are the cause of Charcot-Marie-Tooth disease type 4F
General
membrane protein
nuclear protein
Properties
SIZE: MW = 155 kD
entity length = 1461 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: PDZ domain
NAME: PDZ domain
SITE: 16-99
nuclear translocation signal {118-196}
MOTIF: lysine-rich region {118-196}
MOTIF: lysine residue (SEVERAL)
55 X 5 AA repeats {431-783}
MOTIF:
glutamate-rich region {1098-1235}
MOTIF: glutamate residue (SEVERAL)
glutamate-rich region {1353-1361}
MOTIF: glutamate residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 605725
UniProt Q9BXM0
Pfam PF00595
References
- UniProt :accession Q9BXM0
- Inherited peripheral neuropathies mutation db
http://www.molgen.ua.ac.be/CMTMutations/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PR