MPZ

myelin protein zero

Summary

This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

Known Variants432 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs71639056	1:161,274,448	G/C	—	benign
rs886045471	1:161,274,592	T/G	—	uncertain significance
rs71639057	1:161,274,618	T/A	—	conflicting classifications of pathogenicity
rs886045472	1:161,274,646	C/T	—	uncertain significance
rs372340608	1:161,274,712	G/T	—	uncertain significance
rs1489097338	1:161,274,763	C/T	—	uncertain significance
rs886045473	1:161,274,808	A/G	—	uncertain significance
rs16832786	1:161,274,905	T/C	—	benign
rs533147214	1:161,274,914	C/T	—	uncertain significance
rs140992541	1:161,274,923	G/A	—	conflicting classifications of pathogenicity
rs886045474	1:161,274,985	T/A	—	uncertain significance
rs60821801	1:161,275,042	G/A	—	likely benign
rs60731755	1:161,275,098	G/C	—	likely benign
rs900816889	1:161,275,144	G/T	—	uncertain significance
rs868502674	1:161,275,231	A/C	—	uncertain significance
rs1359055917	1:161,275,297	G/A	—	uncertain significance
rs6682046	1:161,275,306	G/C	—	conflicting classifications of pathogenicity
rs557613782	1:161,275,325	T/C	—	uncertain significance
rs772995394	1:161,275,415	G/C	—	uncertain significance
rs150182811	1:161,275,471	A/C	—	conflicting classifications of pathogenicity
rs774748921	1:161,275,564	G/A	—	uncertain significance
rs774701563	1:161,275,614	C/T	—	conflicting classifications of pathogenicity
rs1670223090	1:161,275,662	A/C	—	uncertain significance
rs751066172	1:161,275,665	G/A	—	likely benign
rs1670223250	1:161,275,668	A/G	—	uncertain significance
rs1571816977	1:161,275,671	T/A	—	uncertain significance
rs1571816986	1:161,275,675	A/G	—	likely benign
rs1571816993	1:161,275,677	C/T	—	uncertain significance
rs749722729	1:161,275,682	C/A	—	uncertain significance
rs757552445	1:161,275,683	G/T	—	uncertain significance
rs779544770	1:161,275,685	G/A	—	uncertain significance
rs775575673	1:161,275,691	C/G	—	uncertain significance
rs2526233119	1:161,275,694	A/T	—	uncertain significance
rs1455200299	1:161,275,699	C/G	—	uncertain significance
rs768913825	1:161,275,705	C/T	—	likely benign
rs1571817094	1:161,275,707	T/C	—	uncertain significance
rs1670224859	1:161,275,709	T/C	—	uncertain significance
rs2102257203	1:161,275,710	T/C	—	uncertain significance
rs1670224976	1:161,275,713	C/A	—	conflicting classifications of pathogenicity
rs1057518839	1:161,275,714	A/C	missense variant	pathogenic
rs2102257225	1:161,275,721	G/T	—	uncertain significance
rs1471261466	1:161,275,722	C/G	—	uncertain significance
rs866760194	1:161,275,726	G/A	—	likely benign
rs543191426	1:161,275,728	T/C	—	uncertain significance
rs34307129	1:161,275,729	A/G	—	likely benign
rs773002116	1:161,275,730	C/T	—	uncertain significance
rs1571817146	1:161,275,732	T/A	—	pathogenic
rs1571817154	1:161,275,734	T/A	—	pathogenic
rs2102257271	1:161,275,738	G/T	—	uncertain significance
rs267607247	1:161,275,743	C/A	missense variant	pathogenic
rs1404344759	1:161,275,750	T/C	—	likely benign
rs1040557288	1:161,275,751	G/A	—	uncertain significance
rs1571817201	1:161,275,752	C/T	—	uncertain significance
rs754516430	1:161,275,753	A/T	—	likely pathogenic
rs767339597	1:161,275,754	T/C	—	uncertain significance
rs1571817225	1:161,275,758	G/A	—	conflicting classifications of pathogenicity
rs1571817228	1:161,275,759	C/T	—	likely benign
rs2526233350	1:161,275,762	T/C	—	likely benign
rs281865132	1:161,275,764	G/C	missense variant	uncertain significance
rs755728895	1:161,275,765	C/A	—	likely benign
rs779164418	1:161,275,767	T/C	—	uncertain significance
rs1670228122	1:161,275,769	T/G	—	likely pathogenic
rs750756212	1:161,275,770	G/T	—	uncertain significance
rs201115971	1:161,275,772	G/C	—	conflicting classifications of pathogenicity
rs377495735	1:161,275,774	G/C	—	conflicting classifications of pathogenicity
rs2526233416	1:161,275,779	G/T	—	likely benign
rs2526233433	1:161,275,787	A/C	—	likely benign
rs61458643	1:161,275,796	C/G	—	benign
rs750848798	1:161,275,886	A/G	—	likely benign
rs1670232533	1:161,275,888	T/C	—	likely benign
rs281865131	1:161,275,897	C/A	—	uncertain significance
rs1670232790	1:161,275,898	C/T	—	conflicting classifications of pathogenicity
rs121913593	1:161,275,900	G/A	stop gained	pathogenic
rs147718043	1:161,275,902	C/T	—	conflicting classifications of pathogenicity
rs202176679	1:161,275,906	C/G	—	conflicting classifications of pathogenicity
rs2526234147	1:161,275,925	T/A	—	uncertain significance
rs1571817547	1:161,275,927	C/A	—	uncertain significance
rs2526234181	1:161,275,929	G/A	—	uncertain significance
rs1670234637	1:161,275,931	C/G	—	uncertain significance
rs1064796625	1:161,275,933	T/C	—	uncertain significance
rs2526234286	1:161,275,937	C/T	—	likely benign
rs2526234318	1:161,275,942	T/A	—	pathogenic
rs16832790	1:161,275,943	C/T	—	benign
rs1402742506	1:161,275,944	C/T	—	uncertain significance
rs777928293	1:161,275,946	C/G	—	uncertain significance
rs879254142	1:161,275,948	T/C	—	uncertain significance
rs770994564	1:161,275,951	C/G	—	uncertain significance
rs2526234406	1:161,275,953	A/C	—	uncertain significance
rs567817208	1:161,275,954	T/C	—	uncertain significance
rs1553259536	1:161,275,960	T/A	—	pathogenic
rs1026836999	1:161,275,963	A/G	—	likely benign
rs763165525	1:161,275,964	A/G	—	uncertain significance
rs1571817654	1:161,275,966	A/G	—	likely benign
rs375616364	1:161,275,970	G/C	—	likely benign
rs1454238612	1:161,275,973	A/G	—	likely benign
rs1558153528	1:161,275,977	C/T	—	likely benign
rs1670241133	1:161,276,101	C/G	—	likely benign
rs946514874	1:161,276,109	C/G	—	likely benign
rs987195651	1:161,276,111	C/T	—	likely benign
rs1670241598	1:161,276,116	T/A	—	uncertain significance

Showing 100 of 432 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.