MPZ-His Adenovirus (Human)
MPZ-His Adenovirus (Human) is available 1 time from Abm adinovirus labs
110897A | MPZ-His Adenovirus (Human)size: 250ul | 490.05 USD
- Catalog number110897A
- Price490.05 USD
1. Gene info
- Long gene namemyelin protein zero
- Synonyms gene
- Synonyms gene name
- Charcot-Marie-Tooth neuropathy 1B
- GenBank acession
- Discovery year1990-04-27
- Entrez gene record
- Pubmed identfication
- RefSeq identity
- V-set domain containing
- Ig-like cell adhesion molecule family
- Havana BLAST/BLAT
- Locus Specific Databases
- PubMedThe 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 atrophiestwo new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Serwe 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 geneCharcot-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
- Gene ontology - Biological process
- Gene ontology - Cellular component
- Gene ontology - Molecular function
- Entrez Gene
- Product typeAdenovirus
- Detection and sensitivityBefore using MPZ-His Adenovirus (Human) please read the package insert. It is intended for Human reactivity. Accession Number: BC006491
- Performance and applicationsPlease contact Gentaur's support by livechat, email or phone in order to receive the requested information. The product is for research use only.
- Additional informationThe MPZ-His Adenovirus (Human) could be additionally purified if wanted from the customer. Please contact our sales representative to obtain more information.
- Shipping handling and storageMPZ-His Adenovirus (Human) should be stored according to label on the vial.
- PropertiesHuman 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 target
- Short nameMPZ-His Adenovirus ( )
- Alternative nameMPZ-histidine Adenovirus (H. sapiens)