InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MPZ

Summary

InnateDB Protein

IDBP-593994.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MPZ

Protein Name

myelin protein zero

Synonyms

CHM; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0;

Species

Homo sapiens

Ensembl Protein

ENSP00000431538

InnateDB Gene

IDBG-104264 (MPZ)

Protein Structure

UniProt Annotation

Function

Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein.Isoform L-MPZ: Myelin membrane {ECO:0000269PubMed:22457349}; Single-pass type I membrane protein {ECO:0000269PubMed:22457349}.

Disease Associations

Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269PubMed:10214757, ECO:0000269PubMed:10545037, ECO:0000269PubMed:10737979, ECO:0000269PubMed:10965800, ECO:0000269PubMed:11437164, ECO:0000269PubMed:11438991, ECO:0000269PubMed:11445635, ECO:0000269PubMed:11835375, ECO:0000269PubMed:12207932, ECO:0000269PubMed:12221176, ECO:0000269PubMed:12402337, ECO:0000269PubMed:12497641, ECO:0000269PubMed:12707985, ECO:0000269PubMed:12845552, ECO:0000269PubMed:14711881, ECO:0000269PubMed:15036333, ECO:0000269PubMed:16488608, ECO:0000269PubMed:7504284, ECO:0000269PubMed:7505151, ECO:0000269PubMed:7527371, ECO:0000269PubMed:7530774, ECO:0000269PubMed:7550231, ECO:0000269PubMed:7688964, ECO:0000269PubMed:7693129, ECO:0000269PubMed:7693130, ECO:0000269PubMed:7694726, ECO:0000269PubMed:8664899, ECO:0000269PubMed:8797476, ECO:0000269PubMed:8816708, ECO:0000269PubMed:8835320, ECO:0000269PubMed:8844219, ECO:0000269PubMed:8990016, ECO:0000269PubMed:9187667, ECO:0000269PubMed:9217235, ECO:0000269PubMed:9452091, ECO:0000269PubMed:9452099, ECO:0000269PubMed:9633821, ECO:0000269Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:11835375, ECO:0000269PubMed:14638973, ECO:0000269PubMed:15241803, ECO:0000269PubMed:9595994}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. {ECO:0000269PubMed:10071056, ECO:0000269PubMed:11080237, ECO:0000269PubMed:15326256, ECO:0000269PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. {ECO:0000269PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269PubMed:10406984}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269PubMed:11438991, ECO:0000269PubMed:11596785, ECO:0000269PubMed:11835375, ECO:0000269PubMed:12497641, ECO:0000269PubMed:7506095, ECO:0000269PubMed:8630052, ECO:0000269PubMed:8816708, ECO:0000269PubMed:9187667, ECO:0000269PubMed:9222756, ECO:0000269PubMed:9452055, ECO:0000269PubMed:9452091, ECO:0000269PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269PubMed:15184631}. Note=The disease is caused by mutations affecting the gene represented in this entry.Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. {ECO:0000269PubMed:10553995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found only in peripheral nervous system Schwann cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding

Biological Process

GO:0007268	synaptic transmission
GO:0008219	cell death

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0043209	myelin sheath

Protein Structure and Domains

PDB ID

InterPro

IPR000920 Myelin P0 protein like
IPR003596 Immunoglobulin V-set, subgroup
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR013106 Immunoglobulin V-set domain
IPR019566 Myelin-PO, C-terminal

PFAM

PF07686
PF10570

PRINTS

PR00213

PIRSF

SMART

SM00406
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt