Myelin Protein Zero (MPZ) Antibody – Goat Polyclonal

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

Subunit structure: Homodimer and homotetramer

Probable. Ref.15

Subcellular location: Cell membrane; Single-pass type I membrane protein Ref.11. Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein Ref.11.

Tissue specificity: Found only in peripheral nervous system Schwann cells.

Post-translational modification: N-glycosylated; contains sulfate-substituted glycan

By similarity.

Involvement in disease: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.9 Ref.10 Ref.16 Ref.17 Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.34 Ref.35 Ref.36 Ref.40 Ref.43 Ref.44 Ref.45 Ref.47 Ref.50 Ref.51 Ref.53 Ref.54 Ref.55 Ref.56 Ref.58 Ref.60 Ref.61 Ref.62 Ref.64 Ref.69 Ref.70 Ref.72Charcot-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 regeneration 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.37 Ref.54 Ref.63 Ref.66Charcot-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 regeneration 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. Ref.39 Ref.49 Ref.68 Ref.73Adie 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.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.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.42Dejerine-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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20 Ref.24 Ref.28 Ref.30 Ref.32 Ref.33 Ref.34 Ref.36 Ref.50 Ref.52 Ref.54 Ref.60Neuropathy, 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.67Roussy-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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.38

Sequence similarities: Belongs to the myelin P0 protein family.Contains 1 Ig-like V-type (immunoglobulin-like) domain.

Sequence caution: The sequence AAH06491.1 differs from that shown. Reason: Erroneous initiation. The sequence AAP35411.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA03540.1 differs from that shown. Reason: Erroneous initiation. The sequence BAG36330.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH70270.1 differs from that shown. Reason: Erroneous initiation. The sequence EAW52606.1 differs from that shown. Reason: Erroneous initiation.