MPZ
entrez
4359
canonical
uniprot
P25189
canonical
ensembl
ENSG00000158887
resolver
ensp
ENSP00000432943
resolver
ensp
ENSP00000500814
resolver
enst
ENST00000672602
resolver
genesymbol
MPZ
resolver
hgnc
HGNC:7225
resolver
uniprot
A0A5F9ZI26
resolver
uniprot
Q16072
resolver
uniprot
Q5VTH4
resolver
uniprot
Q92677
resolver
uniprot
Q9BR67
resolver
uniprot_entry
A0A5F9ZI26_HUMAN
resolver
uniprot_entry
MYP0_HUMAN
resolver
uniprot_sec
Q16072
resolver
uniprot_sec
Q5VTH4
resolver
uniprot_sec
Q92677
resolver
uniprot_sec
Q9BR67
resolver
amino_acid_sequence
MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGLGESRKDKK
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 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:0000269|PubMed:10093067, ECO:0000269|PubMed:10214757, ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10965800, ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:11445635, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12207932, ECO:0000269|PubMed:12221176, ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:12707985, ECO:0000269|PubMed:12845552, ECO:0000269|PubMed:14711881, ECO:0000269|PubMed:15036333, ECO:0000269|PubMed:16488608, ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:7504284, ECO:0000269|PubMed:7505151, ECO:0000269|PubMed:7527371, ECO:0000269|PubMed:7530774, ECO:0000269|PubMed:7550231, ECO:0000269|PubMed:7688964, ECO:0000269|PubMed:7693129, ECO:0000269|PubMed:7693130, ECO:0000269|PubMed:7694726, ECO:0000269|PubMed:8644725, ECO:0000269|PubMed:8664899, ECO:0000269|PubMed:8797476, ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:8835320, ECO:0000269|PubMed:8844219, ECO:0000269|PubMed:8990016, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9217235, ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9452099, ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9888385, ECO:0000269|Ref.42}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 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. {ECO:0000269|PubMed:10764043, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14638973, ECO:0000269|PubMed:14871447, ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9595994}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 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. 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:0000269|PubMed:10071056, ECO:0000269|PubMed:11080237, ECO:0000269|PubMed:15326256, ECO:0000269|PubMed:16775239}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:16775239}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, dominant intermediate 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:0000269|PubMed:10406984, ECO:0000269|PubMed:11801400}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:11438991, ECO:0000269|PubMed:11596785, ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:7506095, ECO:0000269|PubMed:8630052, ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9222756, ECO:0000269|PubMed:9452055, ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9888385}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:10553995}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuropathy, congenital hypomyelinating, 2 (CHN2) [MIM:618184]: 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. {ECO:0000269|PubMed:10319895, ECO:0000269|PubMed:15184631, ECO:0000269|PubMed:8816708}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction. {ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}.
uniprot
proteins
mass_dalton
27555
uniprot
proteins
post_translational_modification
PTM: N-glycosylated; contains sulfate-substituted glycan. {ECO:0000250}.
uniprot
proteins
protein_family
Myelin P0 protein family
uniprot
proteins
pubmed
10071056
uniprot
proteins
pubmed
10093067
uniprot
proteins
pubmed
10214757
uniprot
proteins
pubmed
10319895
uniprot
proteins
pubmed
10329755
uniprot
proteins
pubmed
10406984
uniprot
proteins
pubmed
10545037
uniprot
proteins
pubmed
10553995
uniprot
proteins
pubmed
10737979
uniprot
proteins
pubmed
10764043
uniprot
proteins
pubmed
10923043
uniprot
proteins
pubmed
10965800
uniprot
proteins
pubmed
11080237
uniprot
proteins
pubmed
11437164
uniprot
proteins
pubmed
11438991
uniprot
proteins
pubmed
11445635
uniprot
proteins
pubmed
11596785
uniprot
proteins
pubmed
11801400
uniprot
proteins
pubmed
11835375
uniprot
proteins
pubmed
12207932
uniprot
proteins
pubmed
12221176
uniprot
proteins
pubmed
12402337
uniprot
proteins
pubmed
12477701
uniprot
proteins
pubmed
12497641
uniprot
proteins
pubmed
12707985
uniprot
proteins
pubmed
12845552
uniprot
proteins
pubmed
14638973
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14711881
uniprot
proteins
pubmed
14871447
uniprot
proteins
pubmed
15036333
uniprot
proteins
pubmed
15159512
uniprot
proteins
pubmed
15184631
uniprot
proteins
pubmed
15241803
uniprot
proteins
pubmed
15326256
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16488608
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16775239
uniprot
proteins
pubmed
1719967
uniprot
proteins
pubmed
18337304
uniprot
proteins
pubmed
21971831
uniprot
proteins
pubmed
22457349
uniprot
proteins
pubmed
7504284
uniprot
proteins
pubmed
7505151
uniprot
proteins
pubmed
7506095
uniprot
proteins
pubmed
7509228
uniprot
proteins
pubmed
7518101
uniprot
proteins
pubmed
7527371
uniprot
proteins
pubmed
7530774
uniprot
proteins
pubmed
7550231
uniprot
proteins
pubmed
7688964
uniprot
proteins
pubmed
7693129
uniprot
proteins
pubmed
7693130
uniprot
proteins
pubmed
7694726
uniprot
proteins
pubmed
7762451
uniprot
proteins
pubmed
8630052
uniprot
proteins
pubmed
8644725
uniprot
proteins
pubmed
8664899
uniprot
proteins
pubmed
8797476
uniprot
proteins
pubmed
8816708
uniprot
proteins
pubmed
8835320
uniprot
proteins
pubmed
8844219
uniprot
proteins
pubmed
8990016
uniprot
proteins
pubmed
9187667
uniprot
proteins
pubmed
9217235
uniprot
proteins
pubmed
9222756
uniprot
proteins
pubmed
9452055
uniprot
proteins
pubmed
9452091
uniprot
proteins
pubmed
9452099
uniprot
proteins
pubmed
9595994
uniprot
proteins
pubmed
9633821
uniprot
proteins
pubmed
9888385
uniprot
proteins
sequence_length
248
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18337304}; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform L-MPZ]: Myelin membrane {ECO:0000269|PubMed:22457349}; Single-pass type I membrane protein {ECO:0000269|PubMed:22457349}.
uniprot
proteins
transmembrane_region
TRANSMEM 154..179; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins