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Validated All-in-One™ qPCR Primer for PMP22(NM_153321.3) Search again
Product ID:
HQP158897
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
Gene Description:
peripheral myelin protein 22
Target Gene Accession:
NM_153321.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein.
Gene References into function
- both functions of PMP22, in regulating Schwann cell differentiation and contributing to peripheral myelin compaction, are affected by its overexpression.
- deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene.
- SSCP analysis of this gene in Croatian patients
- Conformation of the transmembrane domains in peripheral myelin protein 22 is studied using solution-phase synthesis.
- Sequence deletion in the PMP22 gene was noted in a case of hereditary neuropathy with liability to pressure palsy complicated by hypoglossal neuropathy
- distinct mutations in PMP22 gene is found in brachial palsy.
- we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype.
- we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) leading to a T23R missense mutation in PMP22.
- a PMP22 mutation (Ser22Phe) may play a role in hereditary neuropathy
- PMP22 and P0 are involved in both trans-homophilic and trans-heterophilic interactions. Disease-related point mutations of P0 resulted in a decreased adhesion capability correlating with the severity of the respective disease phenotype.
- We report the clinical and electrophysiological findings observed in a kindred with three members affected by HNPP due to a deletion containing exons 4 and 5 of the PMP22 gene.
- At postnatal day 4 Pmp22 transgenic mice show strongly reduced expression of genes important for cholesterol synthesis.
- The differences in sensorineural hearing impairment may be explained by the differences in PMP22 expression.
- A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy.
- point mutation in the PMP22 gene is a rare cause of hereditary neuropathy.
- The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of hereditary neuropathy with liability to pressure palsies.
- As a result of missorting and inefficient proteasomal degradation, the aggregation of PMP22 and recruitment of autophagosomes and lysosomes are key factors in the subcellular pathogenesis of CMT1A neuropathies.
- PMP22 forms a complex with alpha6beta4 integrin in cultured colonic adenocarcinoma cells.
- T118M PMP22 mutation causes partial loss of function and hereditary neuropathy with liability to pressure palsies.
- CMT represents a heterogeneous group of disorders at the molecular level. Testing for the CMT1A duplication (i.e., duplication of PMP22) alone yields an accurate molecular diagnosis in approximately half of all patients.
- determined the N-terminal part of Siva as the binding region for CD27; the peroxisomal membrane protein PMP22 is a new interaction partner of Siva and may be involved in the host response against CVB3.
- The phenotypic expression is identical in patients with Leu7fs mutation and patients with HNPP caused by chromosome 17p11.2 deletion. Reduction of PMP22 is sufficient to cause the full HNPP phenotype.
- This study investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT).
- Results show PMP22 is highly helical, shows evidence of stable tertiary structure, and exhibits a strong tendency to dimerize.
- The rate of duplication was 92.3' (36/39) in the patients whereas it was zero in the control samples.
- Our findings suggest that in a subgroup of CMT1A patients there is an increase in clinical severity over generations. The mechanism responsible for this observation remains unknown. Our findings should be validated on a larger cohort of CMT1A families.
- novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings.
- Deletions in both PMP22 alleles caused Charcot-Marie-Tooth disease with a Dejerine-Sottas disease phenotype.
- The results lead to the hypothesis that ER quality control recognizes the G150D and L16P mutant forms of PMP22 as defective through mechanisms closely related to their conformational instability and/or slow folding.