MYP0_HUMAN » Myelin protein P0

MYP0_HUMAN » Myelin protein P0
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
MYP0_HUMAN » Myelin protein P0 » Myelin peripheral protein;MPP; Myelin protein zero;
Hydrophobic Thickness 35.6 ± 1.4 Å
Tilt Angle 0 ± 0°
ΔGtransfer -55.0 kcal/mol
ΔGfold -21.7 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 154-180 (151-187)
Pathways

Cell adhesion molecules (KEGG)

PDB 3oai (30-150)
OPM 1neu (RAT), 3oai
Complexes none
Interactions none
Domains

AA: 33-147, PDBID: 3OAI, Subunit A, Seq Identity:100%, Immunoglobulin V-set domain

AA: 184-248, Myelin-PO cytoplasmic C-term p65 binding region

UniProt annotation for MYP0_HUMAN » Myelin protein P0
FUNCTION: Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.

SUBUNIT: Homodimer and homotetramer.

TISSUE SPECIFICITY: Found only in peripheral nervous system Schwann cells.

DISEASE: Charcot-Marie-Tooth disease 1B (CMT1B) OMIM: 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. is caused by mutations affecting the gene represented in this entry.

DISEASE: Charcot-Marie-Tooth disease 2I (CMT2I) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Charcot-Marie-Tooth disease 2J (CMT2J) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Adie pupil (ADIEP) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) OMIM: 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. disease may be caused by mutations affecting the gene represented in this entry.

DISEASE: Dejerine-Sottas syndrome (DSS) OMIM: 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. disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Neuropathy, congenital hypomyelinating or amyelinating (CHN) OMIM: 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. caused by mutations affecting the gene represented in this entry.

DISEASE: Roussy-Levy syndrome (ROULS) OMIM: 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. mutations affecting the gene represented in this entry.

UniProt features for MYP0_HUMAN » Myelin protein P0
SIGNAL 1 29
CHAIN 30 248 Myelin protein P0.
DOMAIN 30 143 Ig-like V-type.
DISULFID 50 127
Amino Acid Sequence for MYP0_HUMAN » Myelin protein P0
MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL GESRKDKK