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MPZ-His Adenovirus (Human)

MPZ-His Adenovirus (Human) is available 1 time from Abm adinovirus labs

110897A | MPZ-His Adenovirus (Human) size: 250ul | 495.87 USD

Catalog number 110897A
Price495.87 USD
Size 250ul
1. Gene info
Identity7225
GeneMPZ
Long gene name myelin protein zero
Synonyms gene
Synonyms gene name
  • Charcot-Marie-Tooth neuropathy 1B
GenBank acession
Locus1q23.3
Discovery year 1990-04-27
Entrez gene record4359
Pubmed identfication
RefSeq identity
Classification
  • V-set domain containing
  • Ig-like cell adhesion molecule family
Havana BLAST/BLATOTTHUMG00000034341
Additional information
PubMedPeripheral neuropathies caused by mutations in the myelin protein zero.
The index patient of this family with unusual Charcot-Marie-Tooth phenotype is found to have a missense mutation within the intracellular domain of myelin protein zero.
Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. This report adds new data concerning the clinical presentations of MPZ mutations.
Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III, and mild phenotype CMT1B presented with only decreased or absent reflexes, foot deformities and mild or absent lower limb atrophies
two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser
we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination-dysmyelination process in a family harboring the Pro132Leu mutation in the myelin protein zero gene
Charcot-Marie-Tooth disease has been described in a large Norwegian family caused by a copy number variation in myelin protein zero.
The new allelic variants of hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene are described.
this mutation is especially important because it implicates the significance of the immunoglobulin-like structure of MPZ protein
Genotype of MPZ mutations and phenotype of Charcot Marie Tooth Disease are correlated.
Gene ontology - Molecular functionstructural molecule activity
Entrez Genemyelin protein zero  (MPZL3)
Shipping handling and storage MPZ-His Adenovirus (Human) should be stored according to label on the vial.
Additional information The MPZ-His Adenovirus (Human) could be additionally purified if wanted from the customer. Please contact our sales representative to obtain more information.
Detection and sensitivity Before using MPZ-His Adenovirus (Human) please read the package insert. It is intended for Human reactivity. Accession Number: BC006491
Product type Adenovirus
Performance and applications Please contact Gentaur's support by livechat, email or phone in order to receive the requested information. The product is for research use only.
Conjugation histidine
Properties Human proteins, cDNA and human recombinants are used in human reactive ELISA kits and to produce anti-human mono and polyclonal antibodies. Modern humans (Homo sapiens, primarily ssp. Homo sapiens sapiens). Depending on the epitopes used human ELISA kits can be cross reactive to many other species. Mainly analyzed are human serum, plasma, urine, saliva, human cell culture supernatants and biological samples.
Gene targetMPZ-His Adenovirus
Short name MPZ-His Adenovirus ( )
Label His
Species Human
Alternative name MPZ-histidine Adenovirus (H. sapiens)
Virus adenovirus
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