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FLASH GENE

Symbol

PMP22

contributors: shn - updated : 27-10-2016

HGNC name	peripheral myelin protein 22
HGNC id	9118

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AIDP acute inflammatory demyelinating polyneuropathy CMT1A Charcot-Marie-Tooth disease, demyelinating, type 1A CMT1E Charcot-Marie-Tooth disease, demyelinating, type 1E DSS1 Dejerine-Sottas syndrome 1 HNPP neuropathy, hereditary liability to pressure palsies RLAD Roussy-Levy hereditary areflexic dystasia
Location	17p12      Physical location : 15.133.096 - 15.168.644
Synonym name	growth arrest-specific 3
	growth arrest-specific protein 3
Synonym symbol(s)	GAS3, PMP-22, HNPP, SP110, CMT1A, CMT1E, GAS-3, HMSNIA, MGC20769

DNA

TYPE	functioning gene
STRUCTURE	35.55 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   silencer   transcription factor
text structure	positive regulatory element in the myelin specific promoter
	silencer element sensitive to a cAMP
	transcription factor binding sites, including OREB
	expressed from two alternate promoters, P1 transcribing exon 1A and P2 transcribing exon 1B, with the same protein produced with the translation start site in exon 2
	a 11 kb enhancer is upregulated by two transcription factors: early growth response 2 (EGR2) and SOX10

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D17S955 - D17S839 - PMP22 - D17S1843 - D17S953 - cen
Authors	Murakami (97)

regionally located

flanked by the distal and proximal low copy repeats CMT1AREPT and CMT1AREPC

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000304 5 splicing 1828 NP_000295 - 160 - - NM_153321 5 splicing 1816 NP_696996 - 160 - - NM_153322 4 splicing 1669 NP_696997 - 160 - -

EXPRESSION

Type	ubiquitous

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 Digestive intestine           liver         Hearing/Equilibrium ear inner cochlea   highly Nervous nerve cranial nerve     highly Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central white matter     Nervous peripherous       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four transmembrane domains

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Pmp22, Mus musculus
	ortholog to PMP22, Pan troglodytes
	ortholog to Pmp22, Rattus norvegicus

intraspecies

homolog to EMP2

Homologene

FAMILY

PMP22/EMP/MP20 family

CATEGORY

signaling , receptor membrane

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	component of the compact myelin, involved in formation and maintenance of compacting myelin, possibly component of intercellular junctions in epithelial
	transcriptional activity
	involved in normal axonal cytoskeletal organization and in cell cell interactions

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	cytoskeletal

PATHWAY

metabolism

signaling

neurotransmission , sensory transduction/hearing

synaptic transmission

a component

INTERACTION

DNA

RNA

small molecule

protein	protein zero, P0
	lectin chaperone calnexin, CNX
	potential interaction with CANX, and in the absence of CANX, it is possible that PMP22 folding and function are modified, leading to dysmyelination
	TEAD1 is a novel regulator of PMP22 expression during development in concert with SOX10 and EGR2

cell & other

REGULATION

activated by

Egr2 (

Other	Sox10 (
	coordinately regulated by multiple enhancers

ASSOCIATED DISORDERS

corresponding disease(s)

CMT1A , HNPP , RLAD , CMT1E , AIDP , DSS1

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	PMP22-transgenic rats, overexpressing pmp22 gene, develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness (
	PMP22 duplication in Schwann cells results in an impairment in the normal axonal cytoskeletal organization, resulting in distal axonal degeneration and fiber loss, and the affect of PMP22 deletion on axonal cytoskeleton is less deleterious (
	PMP22, when overexpressed, accumulates in a late Golgi-cell membrane compartment and uncouples myelin assembly from the underlying program of Schwann cell differentiation (
	Histological analysis of both mouse lines, harbouring H12R or Y153TER mutation, revealed hypo-myelination of peripheral nerves (