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FLASH GENE

Symbol

MPZ

contributors: mct/npt - updated : 10-05-2016

HGNC name	myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
HGNC id	7225

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT1B Charcot-Marie-Tooth disease, demyelating, type 1B CMT2I Charcot-Marie-Tooth disease, axonal, type 2I CMT2J Charcot-Marie-Tooth neuropathy, type 2J CMT3A hypomyelination neuropathy, congenital CMTDID Charcot-Marie-Tooth, dominant intermediate D
Location	1q23.3      Physical location : 161.274.526 - 161.279.762
Synonym name	myelin P0 protein
	myelin peripheral protein
Synonym symbol(s)	P0, DSS, MPP, CHM, CMT1, HMSNIB, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3

DNA

TYPE	functioning gene
STRUCTURE	5.24 kb     6 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

text structure

variant within the first intron of MPZ that resides within a previously described SOX10 binding site is associated with decreased enhancer activity, and alters binding of nuclear proteins

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - MUC1 - SPTA1 - FCGR2B - qter
Authors	Oakey (92)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000530 6 - 1980 NP_000521 30 248 - 2012 22457349 MPZ, also known as P0 29-aa signal sequence mature P0 protein (219 aa) is N-glycosylated is important for the function of the PNS, and a large number of P0 mutations cause hereditary motor sensory neuropathies NM_001315491 - - 1970 NP_001302420 35 312 - 2012 22457349 L-MPZ derived from P0 mRNA by stop codon readthrough contains an additional domain at the C terminus has an extra 63 aa at the C terminus of P0, which are located in the cytoplasm

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       highly Nervous brain       moderately

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

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a cytoplasmic domain undergoing phosphorylation on several serine residues and a tyrosine group that is maximal during peak nerve myelination
	a large extracellular domain containing a Ig-V type, a single 124 amino acid immunoglobulin-like domain
	a single 26AA transmembrane segment
	a short intracytoplasmic C terminal tail

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to murine Mpz
	ortholog to rattus Mpz

Homologene

FAMILY

myelin P0 protein family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,lysosome
text	integral to plasma membrane
	type I membrane protein
	localized at cell-cell adhesion sites in the plasma membrane

basic FUNCTION	involved in formation and maintenance of compact myelin
	playing a role in the creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae
	critical structural component of myelin in the peripheral nervous system
	the main function of MPZ is the formation and stabilization of the multilamellar membrane structure of compact myelin
	while PLP1 can co-exist with MPZ in peripheral nervous system (PNS) myelin, PLP1 cannot replace MPZ as the major structural protein of PNS myelin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

nervous system

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component	forming complexes with PMP22
	N-glycan sulfated

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

regulated, in part, by the transcription factors SOX10 and EGR2

ASSOCIATED DISORDERS

corresponding disease(s)

CMT1B , CMT3A , CMT2J , CMT2I , CMTDID

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS