Peripheral Myelin Protein 22 (PMP22)

DSS; CMT1A; CMT1E; GAS3; HMSNIA; HNPP; Sp110; Growth arrest-specific protein 3

SPN	U111
HGNC	9118
MGI	97631
PubMed	12244079
RGD	3359
UniProt	Q01453
Wiki	PMP22

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

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.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 (HNPP).

Reference

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"Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A."
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Nat. Genet. 5:189-194(1993) [PubMed] [Europe PMC] [Abstract]

"Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene."
Nat. Genet. 5:269-273(1993) [PubMed] [Europe PMC] [Abstract]

"Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene."
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Acta Neuropathol. 90:645-649(1995) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 5:76-80(1995) [PubMed] [Europe PMC] [Abstract]

"Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene."
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"A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease."
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"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies."
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"Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene."
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"PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?"
Nat. Genet. 15:13-14(1997) [PubMed] [Europe PMC] [Abstract]

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"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible 'hot spot' on Ser72."
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"Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease."
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"Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene."
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"A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness."
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"Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene."
Neurology 60:506-508(2003) [PubMed] [Europe PMC] [Abstract]

"HNPP due to a novel missense mutation of the PMP22 gene."
Neurology 60:1863-1864(2003) [PubMed] [Europe PMC] [Abstract]

"A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes."
Neurogenetics 5:171-175(2004) [PubMed] [Europe PMC] [Abstract]

"A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness."
Neuromuscul. Disord. 14:325-328(2004) [PubMed] [Europe PMC] [Abstract]

"T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy."
Ann. Neurol. 59:358-364(2006) [PubMed] [Europe PMC] [Abstract]