MPZ Chromosome 1

Myelin protein zero
202 variants 202 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"V-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000158887
Associated Conditions (39)
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1B
type I
Inborn genetic diseases
Decreased nerve conduction velocity
Pes cavus
Sensory neuropathy
Distal lower limb amyotrophy
Distal muscle weakness
MPZ-related disorder
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 2I
7 conditions
Charcot-Marie-Tooth disease type 2J
Neuropathy
congenital hypomyelinating
2
Roussy-Lévy syndrome
Tip-toe gait
Dejerine-Sottas disease
+19 more conditions
Key Variants
RS1034932344
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
Health Risk
RS121913589
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
Health Risk
RS121913596
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, type I
Health Risk
RS121913600
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
Health Risk
RS121913603
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
Health Risk
RS121913604
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
Health Risk
RS121913605
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease, type I
Health Risk
RS121913608
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B
Health Risk
RS121913609
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease, type I
Health Risk
RS1383238492
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS1386345719
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
Health Risk
RS1399612102
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
All Variants (202)
RSID Category Clinical Significance Conditions
RS1034932344 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS121913589 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
RS121913596 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, type I
RS121913600 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
RS121913603 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
RS121913604 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913605 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease, type I
RS121913608 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B
RS121913609 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease, type I
RS1383238492 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1386345719 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
RS1399612102 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS140992541 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease dominant intermediate D
RS147718043 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS150182811 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome
RS1553259647 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B, type I
RS1553259664 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1553259811 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B
RS1553259835 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
RS1571817225 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1571818007 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Neuropathy, congenital hypomyelinating
RS1571818721 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1571818953 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B
RS1571819084 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
RS1571819890 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1571820049 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Roussy-Lévy syndrome, type I
RS1571820067 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
RS1571820092 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1571820317 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B, type I
RS1670224976 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1670232790 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS1670263376 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS200151353 Health Risk Conflicting classifications of pathogenicity 7 conditions, Charcot-Marie-Tooth disease, type I
RS201115971 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
RS201156403 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
RS202176679 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease
RS2526238022 Health Risk Conflicting classifications of pathogenicity —
RS267607241 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS281865127 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
RS368149365 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Dejerine-Sottas disease
RS377495735 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS530923760 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease dominant intermediate D
RS573007540 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS6682046 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Neuropathy
RS71639057 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease dominant intermediate D
RS750756212 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
RS750777955 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B
RS754068936 Health Risk Conflicting classifications of pathogenicity 7 conditions, Charcot-Marie-Tooth disease, type I
RS755446743 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B
RS760227243 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
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