Peripheral myelin protein 22
- Peripheral myelin protein 22
Peripheral myelin protein 22, also known as PMP22, is a human gene.
The integral membrane protein encoded by this gene is a hydrophobic, tetraspan glycoprotein expressed mainly in Schwann cells and is a major component of compact myelin in the peripheral nervous system.[cite journal |author=Snipes GJ, Suter U, Welcher AA, Shooter EM |title=Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13) |journal=J. Cell Biol. |volume=117 |issue=1 |pages=225–38 |year=1992 |month=April |pmid=1556154 |pmc=2289391 |doi= |url=http://www.jcb.org/cgi/pmidlookup?view=long&pmid=1556154] Various mutations of the 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. [cite web | title = Entrez Gene: PMP22 peripheral myelin protein 22| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5376| accessdate = ] ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Patel PI, Lupski JR |title=Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. |journal=Trends Genet. |volume=10 |issue= 4 |pages= 128–33 |year= 1994 |pmid= 7518101 |doi=
*cite journal | author=Roa BB, Lupski JR |title=Molecular genetics of Charcot-Marie-Tooth neuropathy. |journal=Adv. Hum. Genet. |volume=22 |issue= |pages= 117–52 |year= 1995 |pmid= 7762451 |doi=
*cite journal | author=Nelis E, Haites N, Van Broeckhoven C |title=Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. |journal=Hum. Mutat. |volume=13 |issue= 1 |pages= 11–28 |year= 1999 |pmid= 9888385 |doi= 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A |doilabel=10.1002/(SICI)1098-1004(1999)13:111::AID-HUMU23.0.CO;2-A
*cite journal | author=Jetten AM, Suter U |title=The peripheral myelin protein 22 and epithelial membrane protein family. |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=64 |issue= |pages= 97–129 |year= 2000 |pmid= 10697408 |doi=
PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = no
update_citations = yes
Wikimedia Foundation.
2010.
Look at other dictionaries:
Myelin protein zero — PDB rendering based on 1neu … Wikipedia
myelin protein zero — noun the major structural protein of the peripheral myelin sheath … Wiktionary
Peripheral neuropathy — Neuropathy redirects here. For other uses, see Neuropathy (disambiguation). Not to be confused with Nephropathy. Peripheral neuropathy Classification and external resources … Wikipedia
Myelin sheath gap — Drawing of a peripheral nerve axon (labeled axis cylinder ), showing a node of Ranvier along with other features … Wikipedia
Myelin basic protein — Rendering of MBP from PDB 1BX2 … Wikipedia
Myelin proteolipid protein — (PLP or lipophilin) Identifiers Symbol Myelin PLP Pfam PF01275 InterPro … Wikipedia
Protein-lipid interaction — is the influence of membrane proteins on the lipid physical state or vice versa. The questions which are relevant to understanding of the structure and function of the membrane are: 1) Do intrinsic membrane proteins bind tightly to lipids, and… … Wikipedia
Myelin — Structure of a typical neuron Myelin sheath Dendrite … Wikipedia
Protein C — Not to be confused with C peptide, C reactive protein, or protein kinase C. Protein C (inactivator of coagulation factors Va and VIIIa) Tertiary structure of human activated protein C (minus the Gla domain … Wikipedia
Protein — A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. Proteins are required for the structure, function, and regulation of the body s… … Medical dictionary
