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FLASH GENE

Symbol

PRX

contributors: mct - updated : 13-04-2016

HGNC name	periaxin
HGNC id	13797

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT4F Charcot-Marie-Tooth disease, demyelinating, type 4 F
Location	19q13.2      Physical location : 40.899.671 - 40.919.271
Synonym symbol(s)	KIAA1620, CMT4F

DNA

TYPE	functioning gene
STRUCTURE	19.60 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D19S421 - - D19S324 - PRX - D19S223 - qter
Authors	Boerkel (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_181882 7 splicing 4884 NP_870998 - 1461 . coexpressed in Schwann cells 2015 26467811 PRX-L S-periaxin may regulate the function of L-periaxin in Schwann cells the two periaxin isoforms interacted in the cytoplasm through the PDZ domain, and their interaction prevented the homodimerization of L-periaxin NM_020956 7 splicing 5533 NP_066007 - 147 peripheral nervous tissue 2015 26467811 PRX-S retention of intron 6 truncated protein the two periaxin isoforms interacted in the cytoplasm through the PDZ domain, and their interaction prevented the homodimerization of L-periaxin

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus         Nervous nerve         Homo sapiens   spinal cord         Visual eye lens       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous Schwann cell Homo sapiens Visual lens fibers Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal PDZ domain (90AA protein binding motifs)
	three highly basic nuclear localization signals (NLS)
	a repeat domain
	one acidic region near the C terminus

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Prx

Homologene

FAMILY

periaxin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	redistributing to plasma membrane

basic FUNCTION	stabilization of Schwann cell axons
	may be required for maintenance of peripheral nerve myelin sheath
	may have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane
	may have a role in the early phases of myelin deposition
	PDZ domain protein involved in myelin sheath stabilization, and is also a component of adhaerens plaques in lens fiber cells
	key role in maturation, packing, and membrane organization of lens fiber cells
	DRP2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth
	abundant protein in the peripheral nervous system, with an important role in myelination
	plays a key role in membrane scaffolding and cytoarchitecture (pMID: 26538089)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	nervous system

PATHWAY

metabolism

signaling

a component

tight homodimerization may be central to the scaffolding functions of PRX and AHNAK2 in molecular complexes linking the extracellular matrix to the cytoskeletal network

INTERACTION

DNA

RNA

small molecule

protein	PRX-DRP2 interaction is also required for DRP2 phosphorylation, but phosphorylation is not required for the assembly of appositions
	DRP2 interacts with PRX and dystroglycan to form the PRX-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells
	ANK2 is required for membrane association of PRX in lens fibers and colocalizes with PRX in hexagonal fiber cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT4F

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	in mice lacking functional Periaxin (Prx) genes, a model of a recessive type of CMT disease known as CMT4F, neuromuscular junctions (NMJs) develop profound morphological changes in the preterminal region of motor axons

ANIMAL & CELL MODELS

Prx-/- with peripheral demyelination and neuropathic pain behavior