Entity Details

Primary name MPZ
Entity type gene
Source Source Link

Details

PrimaryID4359
RefseqGeneNG_008055
SymbolMPZ
Namemyelin protein zero
Chromosome1
Location1q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-20
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsMYP0_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005198 structural molecule activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007268 chemical synaptic transmission
GO:0007399 nervous system development
GO:0042552 myelination
GO:0043209 myelin sheath
GO:0045202 synapse
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules
GO:0098743 cell aggregation

Diseases

Show/Hide Table
Disease IDSourceNameDescription
103100 OMIMAdie pupil (ADIEP)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. The disease is caused by variants affecting the gene represented in this entry.
118200 OMIMCharcot-Marie-Tooth disease 1B (CMT1B)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. The disease is caused by variants affecting the gene represented in this entry.
145900 OMIMDejerine-Sottas syndrome (DSS)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. The disease is caused by variants affecting the gene represented in this entry.
180800 OMIMRoussy-Levy syndrome (ROULS)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. The disease is caused by variants affecting the gene represented in this entry.
607677 OMIMCharcot-Marie-Tooth disease 2I (CMT2I)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. The disease is caused by variants affecting the gene represented in this entry.
607736 OMIMCharcot-Marie-Tooth disease 2J (CMT2J)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. 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. The disease is caused by variants affecting the gene represented in this entry.
618184 OMIMNeuropathy, congenital hypomyelinating, 2 (CHN2)A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
607791 OMIMCharcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID)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. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
MPZPINX1HPRD, IntAct16169070 details
MPZCCP110IntAct16760425 details
MPZPSMB3BioGRID, IntAct21988832 details
MPZPMP22BioGRID, HPRD10212299 details
MPZNRASBioGRID30639242 details