Peripheral Myelin Protein 22

Alternative Names

PMP22
Growth Arrest-Specific 3
GAS3

Length

35,548 bases

No. of Exons

No. of isoforms

Protein Name

Peripheral myelin protein 22

Molecular Mass

17891 Da

Amino Acid Count

160

Genomic Location

chr17:15,229,779-15,265,326

Gene Map Locus

17p12

Description

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000304.4:c.277G>C	Saudi Arabia	NC_000017.11:g.15239513C>G	Uncertain Significance	Uncertain Significance		NG_007949.1:g.30815G>C; NM_000304.4:c.277G>C; NP_000295.1:p.Gly93Arg	778693173	637390
NM_000304.4:c.449G>T	Saudi Arabia	NC_000017.11:g.15230951C>A	Pathogenic	Pathogenic	Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	NG_007949.1:g.39377G>T; NM_000304.4:c.449G>T; NP_000295.1:p.Gly150Val	879253954	433198
PMP22, 1.4-MB DUP	Lebanon		Pathogenic	Pathogenic	Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	PMP22, 1.4-MB DUP		8427

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External Links

https://medlineplus.gov/genetics/gene/pmp22/

Contributors

Sami Bizzari: 21.03.2023

Edit History

Sami Bizzari: 21.03.2023

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