Search results for PMP2

Showing 5 results out of 5

×

Species

Types

Compartments

Search properties

Species

Types

Compartments

Search properties

Protein (1 results from a total of 1)

Identifier: R-HSA-9615623
Species: Homo sapiens
Compartment: plasma membrane
Primary external reference: UniProt: PMP22: Q01453

DNA Sequence (1 results from a total of 1)

Identifier: R-HSA-9615620
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: ENSEMBL: ENSG00000109099

Reaction (2 results from a total of 2)

Identifier: R-HSA-9615626
Species: Homo sapiens
Compartment: nucleoplasm, plasma membrane
The PMP22 gene encodes a peripheral myelin protein that is a component of the myelin sheath surrounding axons in the peripheral nervous system (reviewed in Garbay et al, 2000; Svaren and Meijer, 2008). Point mutations and duplications in the PMP22 gene cause the most prevalent form of the demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease, while deletions lead to Hereditary Neuropathy with liability to Pressure Palsies (HNPP) (reviewed in van Passsen et al, 2014). PMP22 expression is controlled by a number of upstream and intronic enhancer elements that are bound by EGR2 and SOX10, master regulators of peripheral nerve myelination (Nagarajan et al, 2001; Maier et al, 2002; Maier et al, 2003; Jones et al, 2011; Jones et al, 2012; Srinivasan et al, 2012). In addition, PMP22 enhancers contain binding sites for the Hippo pathway transcription factor TEAD1, and TEAD1 and co-activators WWTR1 (also known as TAZ) and YAP1 are required for PMP22 expression (Lopez-Anido et al, 2016).
Identifier: R-HSA-9618559
Species: Homo sapiens
Compartment: nucleoplasm
PMP22 gene expression is regulated during peripheral nerve myelination by the binding of EGR2 and SOX10 to upstream and intronic enhancer elements (Nagarajan et al, 2001; Maier et al, 2002; Maier et al, 2003; Jones et al, 2011; Srinivasan et al, 2012). Hippo signaling also influences PMP22 expression during peripheral never myelination by modulating the binding of the TEAD1, WWTR1 (also known as TAZ) and YAP1 to cognate sites in the PMP22 gene (Lopez-Anido et al, 2016; reviewed in Castelnovo et al, 2017).

Complex (1 results from a total of 1)

Identifier: R-HSA-9618555
Species: Homo sapiens
Compartment: nucleoplasm
Cite Us!