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PMP22
Identifikatorar
Andre namn	PMP22, CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sujojp110, GAS3, peripheral myelin protein 22, CIDP, Sp110
Eksterne ID-ar	OMIM: 601097 MGI: 97631 HomoloGene: 7482 GeneCards: PMP22
Genplassering (menneske)
Kromosom	Menneskekromosom 17
Ende	15,272,292 bp
Genplassering (mus)
Kromosom	Musekromosom 11
Ende	63,050,373 bp
RNA-uttrykksmønster
	Top expressed in
	bulbus olfactorius; ; trigeminusganglion; ; spinalganglion; ; nervus tibialis; ; synovialledd; ; skin of hip; ; synsnerve; ; akillessene; ; complexus olivaris inferior; ; cartilage tissue;
	Meir referanseuttrykksdata
	More reference expression data
Genontologi
Molekylær funksjon	GO:0001948, GO:0016582 proteinbinding;
Sellekomponent	integral component of membrane; compact myelin; cellemembran; membran; bicellular tight junction;
Biologisk prosess	myelination; celledifferensiering; bleb assembly; celledød; negative regulation of neuron projection development; peripheral nervous system development; negativ regulering av celleproliferasjon; synaptisk transmisjon; myelin assembly;
	Kjelder:Amigo / QuickGO
Ortologar
	5376
	18858
	ENSG00000109099
	ENSMUSG00000018217
	Q01453
	P16646
NM_000304; NM_001281455; NM_001281456; NM_153321; NM_153322;
	NM_001330143
NM_001302255; NM_001302257; NM_001302258; NM_001302259; NM_001302260;
	NM_001302261; NM_008885
NP_000295; NP_001268384; NP_001268385; NP_001317072; NP_696996;
	NP_696997
NP_001289184; NP_001289186; NP_001289187; NP_001289188; NP_001289189;
	NP_001289190; NP_032911; NP_001391071; NP_001391072; NP_001391206; NP_001391207; NP_001391208; NP_001391209; NP_001391210; NP_001391211; NP_001391212; NP_001391213; NP_001391214; NP_001391215; NP_001391216; NP_001391217; NP_001391218; NP_001391219
	Wikidata
sjå/endra menneske	sjå/endra mus

Perifert myelinprotein 22 (PMP22) er eit glykoprotein som kryssar sellemembranen. Det er ein viktig komponent i myelinet i det perifere nervesystemet, og Schwann-celler knytte til perifere nerveseller har størst uttrykk av PMP22-genet. PMP22-genet har eit relativt lågt uttrykk i det sentrale nervesystemet.^[5]

Kring halvparten av pasentiane med Charcot–Marie–Tooth-sjukdom har ei 1,4 Megabasar duplisering av PMP22-genet på kromosom 17.^[6]

Den eksakte strukturen til PMP22 er ukjend.^[5]

Kjelder

↑ ^1,0 ^1,1 ^1,2 GRCh38: Ensembl release 89: ENSG00000109099 - Ensembl, May 2017
↑ ^2,0 ^2,1 ^2,2 GRCm38: Ensembl release 89: ENSMUSG00000018217 - Ensembl, May 2017
↑ «PubMed-kjelde for menneske:». National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ «PubMed-kjelde for mus:». National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ ^5,0 ^5,1 Li, Jun; Parker, Brett; Martyn, Colin; Natarajan, Chandramohan; Guo, Jiasong (2012). «The PMP22 Gene and Its Related Diseases». Molecular Neurobiology 47 (2): 673. PMID 23224996. doi:10.1007/s12035-012-8370-x.
↑ Wang, David S.; Wu, Xingyao; Bai, Yunhong; Zaidman, Craig; Grider, Tiffany; Kamholz, John; Lupski, James R.; Connolly, Anne M.; Shy, Michael E. (2017). «PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E». Annals of Clinical and Translational Neurology 4 (4): 236. PMID 28382305. doi:10.1002/acn3.395.

Denne biokjemiartikkelen er ei spire. Du kan hjelpe Nynorsk Wikipedia gjennom å utvide han.

[refGRCh38Ensembl-1] 1,0 ^1,1 ^1,2 GRCh38: Ensembl release 89: ENSG00000109099 - Ensembl, May 2017

[refGRCm38Ensembl-2] 2,0 ^2,1 ^2,2 GRCm38: Ensembl release 89: ENSMUSG00000018217 - Ensembl, May 2017

[3] «PubMed-kjelde for menneske:». National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] «PubMed-kjelde for mus:». National Center for Biotechnology Information, U.S. National Library of Medicine.

[Li2013-5] 5,0 ^5,1 Li, Jun; Parker, Brett; Martyn, Colin; Natarajan, Chandramohan; Guo, Jiasong (2012). «The PMP22 Gene and Its Related Diseases». Molecular Neurobiology 47 (2): 673. PMID 23224996. doi:10.1007/s12035-012-8370-x.

[6] Wang, David S.; Wu, Xingyao; Bai, Yunhong; Zaidman, Craig; Grider, Tiffany; Kamholz, John; Lupski, James R.; Connolly, Anne M.; Shy, Michael E. (2017). «PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E». Annals of Clinical and Translational Neurology 4 (4): 236. PMID 28382305. doi:10.1002/acn3.395.

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