peripheral myelin protein 22

末梢ミエリンタンパク質22

関

PMP22

WordNet

1. related to the key issue but not of central importance; "a peripheral interest"; "energy is far from a peripheral issue in the economy"; "peripheral issues"
2. (computer science) electronic equipment connected by cable to the CPU of a computer; "disk drives and printers are important peripherals" (同)computer peripheral, peripheral device
3. on or near an edge or constituting an outer boundary; the outer area; "Russias peripheral provinces"; "peripheral suburbs"
4. any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes; "a diet high in protein"
5. a white fatty substance that forms a medullary sheath around the axis cylinder of some nerve fibers (同)myeline, medulla

PrepTutorEJDIC

1. 周囲の; 周辺（装置）の・末梢的な・重要でない; （...に比べて）瑣末な (to); 【医】末端部の; コンピュータの周辺装置
2. 蛋白(たんばく)質

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/25 01:14:14」(JST)

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Peripheral myelin protein 22
Identifiers
Symbols	PMP22; CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
External IDs	OMIM: 601097 MGI: 97631 HomoloGene: 7482 ChEMBL: 1293298 GeneCards: PMP22 Gene
Gene Ontology Molecular function • protein binding Cellular component • plasma membrane • tight junction • integral to membrane • compact myelin Biological process • synaptic transmission • peripheral nervous system development • negative regulation of cell proliferation • negative regulation of neuron projection development • myelin assembly Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5376	18858
Ensembl	ENSG00000109099	ENSMUSG00000018217
UniProt	Q01453	P16646
RefSeq (mRNA)	NM_000304	NM_008885
RefSeq (protein)	NP_000295	NP_032911
Location (UCSC)	Chr 17: 15.13 – 15.17 Mb	Chr 11: 63.13 – 63.16 Mb
PubMed search	[1]	[2]

Peripheral myelin protein 22, also known as PMP22, is a protein which in humans is encoded by the PMP22 gene. Alternative splicing of this gene results in three transcript variants that encode the same protein.

Function

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.

Clinical significance

Various mutations of the gene are causes of Charcot–Marie–Tooth disease type IA, Dejerine–Sottas disease, and hereditary neuropathy with liability to pressure palsy.

Interactions

Peripheral myelin protein 22 has been shown to interact with myelin protein zero.

References

Further reading

• Patel PI, Lupski JR (1994). "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.". Trends Genet. 10 (4): 128–33. doi:10.1016/0168-9525(94)90214-3. PMID 7518101. 
• Roa BB, Lupski JR (1995). "Molecular genetics of Charcot-Marie-Tooth neuropathy.". Adv. Hum. Genet. 22: 117–52. PMID 7762451. 
• Nelis E, Haites N, Van Broeckhoven C (1999). "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.". Hum. Mutat. 13 (1): 11–28. doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A. PMID 9888385. 
• Jetten AM, Suter U (2000). "The peripheral myelin protein 22 and epithelial membrane protein family.". Prog. Nucleic Acid Res. Mol. Biol. 64: 97–129. doi:10.1016/S0079-6603(00)64003-5. PMID 10697408. 

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. シャルコーマリートゥース病などの一次性の遺伝性運動感覚性ニューロパチー hereditary primary motor sensory neuropathies including charcot marie tooth disease
• 2. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
• 3. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
• 4. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 5. ペルオキシソーム病 peroxisomal disorders

English Journal

• Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.

• Beydoun SR, Cho J.SourceNeuromuscular Division, Keck School of Medicine, University of Southern California, Los Angeles, CA.
• Journal of clinical neuromuscular disease.J Clin Neuromuscul Dis.2013 Sep;15(1):28-33. doi: 10.1097/CND.0b013e31829e22fe.
• Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal dominant disorder that causes a polyneuropathy with predisposition for involvement at sites of compression and is often underdiagnosed or misdiagnosed due to its heterogeneity in clinical and electrophysiologic
• PMID 23965407

• Levels and actions of progesterone and its metabolites in the nervous system during physiological and pathological conditions.

• Melcangi RC, Giatti S, Calabrese D, Pesaresi M, Cermenati G, Mitro N, Viviani B, Garcia-Segura LM, Caruso D.SourceDept. of Pharmacological and Biomolecular Sciences, Section of Biomedicine and Endocrinology, Center of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Via Balzaretti 9, 20133 Milano, Italy. Electronic address: roberto.melcangi@unimi.it.
• Progress in neurobiology.Prog Neurobiol.2013 Aug 16. pii: S0301-0082(13)00068-3. doi: 10.1016/j.pneurobio.2013.07.006. [Epub ahead of print]
• Progesterone is synthesized and actively metabolized in the central and peripheral nervous system, into neuroactive steroid metabolites, such as dihydroprogesterone, allopregnanolone and isopregnanolone. Progesterone and/or its metabolites exert a variety of effects acting as physiological regulator
• PMID 23958466

• Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy.

• Wang Z, Cui F, Chen D, Pu C, Chen Z, Yang F, Wu H, Huang X.SourceDepartment of Neurology, Chinese PLA General Hospital, 28 Fu Xing Road, Beijing, 100853, China; Chinese PLA 421 Central Hospital, Guangdong province, Guangzhou, China.
• Muscle & nerve.Muscle Nerve.2013 Jun 6. doi: 10.1002/mus.23918. [Epub ahead of print]
• Introduction: We describe a 10-year-old Chinese boy with features of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystrophy (DMD). Methods: Case report. Results: Weakness and mild sensory loss in the distal extremities, pes cavus, and nerve conduction findings suggested demyelinating neur
• PMID 23740413

Japanese Journal

• Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan

• Abe Akiko,Numakura Chikahiko,Kijima Kazuki [他],HAYASHI Makiko,HASHIMOTO Taeko,HAYASAKA Kiyoshi
• Journal of human genetics 56(5), 364-368, 2011-05-01
• NAID 10030659221

• Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

• Abe Akiko,Nakamura Kazuyuki,Kato Mitsuhiro [他],NUMAKURA Chikahiko,HONMA Tomomi,SEIWA Chizuru,SHIRAHATA Emi,ITOH Aiko,KISHIKAWA Yumiko,HAYASAKA Kiyoshi
• Journal of human genetics 55(11), 771-773, 2010-11-01
• NAID 10030737757

• Interleukin-6 upregulates the expression of PMP22 in cultured rat Schwann cells via a JAK2-dependent pathway

• Ito Takaaki,Ikeda Kazuo,Tomita Katsuro,Yokoyama Shigeru
• Neuroscience Letters 472(2), 104-108, 2010-03-19
• … The interleukin-6 (IL-6) family of cytokines is thought to be involved in the development and regeneration of peripheral nerves; … In this study, we examined the effects of IL-6 on the expression of genes for compact myelin proteins using Schwann cell cultures prepared by multiple explantation of adult rat sciatic nerves. …
• NAID 120001939297

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★リンクテーブル★

リンク元	「PMP22」「末梢ミエリンタンパク質22」
関連記事	「peripheral」「myel」「myelin protein」

「PMP22」

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• 末梢ミエリンタンパク質22

関

peripheral myelin protein 22

「末梢ミエリンタンパク質22」

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英

peripheral myelin protein 22, PMP22

関

[[]]

「peripheral」

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• adj.

• 末梢性の、末梢の、末梢神経性の、末梢神経の、周辺性の

関

peripheral nerve、peripherally、peripheric、periphery

　 　 　 　

「myel」

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• comb form

• 髄、脊髄、骨髄の意味

• ex.

• myeloncephalon 髄脳

「myelin protein」

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ミエリンタンパク質