组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
背景
This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain , which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies , such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN) . A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq , Oct 2015] ,
功能
Disease:Defects in MPZ are a cause of congenital hypomyelination neuropathy (CHN) [MIM:605253]. CHN is characterized clinically by early onset of hypotonia , areflexia , distal muscle weakness , and very slow nerve conduction velocities. ,Disease:Defects in MPZ are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3) . DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category , with onset by age 2 years. DSS is 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:Defects in MPZ are a cause of Roussy-Levy syndrome [MIM:180800]; also known as Roussy-Levy hereditary areflexic dystasia. This autosomal dominant disorder 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. ,Disease:Defects in MPZ are the cause of Adie pupil [MIM:103100]. Adie pupil is a feature of CMT2J. It is characterized by tonic , sluggishly reacting pupil and hypoactive or absent tendon reflexes. ,Disease:Defects in MPZ are the cause of Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]. CMT1B is a form of Charcot-Marie-Tooth disease , the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1 , and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group 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. ,Disease:Defects in MPZ are the cause of Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]. CMT2I is a form of Charcot-Marie-Tooth disease , the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1 , and primary peripheral axonal neuropathy or 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. CMT2I is characterized by late onset (range 47 to 60 years) . ,Disease:Defects in MPZ are the cause of Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]. CMT2J is a form of Charcot-Marie-Tooth disease characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. Inheritance is autosomal dominant. ,Disease:Defects in MPZ may be the cause of Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]. CMTDID is a form of Charcot-Marie-Tooth disease characterized by features intermediate between demyelinating and axonal peripheral neuropathies , and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ,Function:Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae. ,PTM:N-glycosylated; contains sulfate-substituted glycan. ,similarity:Belongs to the myelin P0 protein family. ,similarity:Contains 1 Ig-like V-type (immunoglobulin-like) domain. ,tissue specificity:Found only in peripheral nervous system Schwann cells. ,
