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myelin P0 protein; myelin protein zero; myelin peripheral protein; MPP (MPZ)

Function: - the major glycoprotein of myelin in the peripheral nervous system - creation of an extracellular membrane face which guides the wrapping process & ultimately compacts adjacent myelin lamellae Structure: - N-glycosylated; contains sulfate-substituted glycan - belongs to the myelin P0 protein family - contains 1 Ig-like V-type domain (immunoglobulin-like) Compartment: membrane, myelin Expression: restricted to peripheral nervous system Schwann cells Pathology: - mutations in the MPZ gene are seen in a) Charcot-Marie-Tooth neuropathy type-1B b) Dejerine-Sottas syndrome - defects in MPZ are the cause of a) Charcot-Marie-Tooth disease type 1B (CMT1B) b) Charcot-Marie-Tooth disease type 2I c) Charcot-Marie-Tooth disease type 2J (CMT2J) d) Adie pupil e) Charcot-Marie-Tooth disease dominant intermediate D f) Dejerine-Sottas syndrome g) congenital hypomyelination neuropathy h) Roussy-Levy syndrome

Related

mpz gene

General

glycoprotein myelin protein phosphoprotein

Properties

SIZE: entity length = 248 aa MW = 28 kD COMPARTMENT: cellular membrane MOTIF: signal sequence {1-29} immunoglobulin superfamily domain {30-143} MOTIF: cysteine residue {C50} MODIFICATION: cysteine residue {C127} N-glycosylation site {N122} cysteine residue {C127} MODIFICATION: cysteine residue {C50} transmembrane domain {154-179} Ser phosphorylation site {S226} Ser phosphorylation site {S228} Ser phosphorylation site {S233} Ser phosphorylation site {S243}

Database Correlations

OMIM correlations UniProt P25189 Pfam PF07686 Entrez Gene 4359

References

  1. UniProt :accession P25189
  2. Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTmutations/
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MPZ
  4. Schachner M, Martini R. Glycans and the modulation of neural-recognition molecule function. Trends Neurosci. 1995 Apr;18(4):183-91. Review. PMID: 7539963