MPZ Chromosome 1
Myelin protein zero
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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 |
|---|---|---|---|
| RS764402416 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS770501358 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I |
| RS774701563 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease dominant intermediate D |
| RS863225026 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I |
| RS864622732 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS876661257 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS879254038 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B |
| RS879254297 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1057518839 | Health Risk | Likely pathogenic | EMG: neuropathic changes, Limb muscle weakness, Tremor |
| RS1060503423 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B |
| RS1064795521 | Health Risk | Likely pathogenic | — |
| RS1180998665 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS121913584 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I |
| RS121913588 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I |
| RS1415733769 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1468741050 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1553259529 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553259536 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B |
| RS1553259648 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, 7 conditions |
| RS1553259656 | Health Risk | Likely pathogenic | Dejerine-Sottas disease, Dejerine-Sottas disease |
| RS1553259662 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1553259760 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1553259792 | Health Risk | Likely pathogenic | — |
| RS1558154010 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2J |
| RS1558154149 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, MPZ-related disorder, type I |
| RS1571817103 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1571817544 | Health Risk | Likely pathogenic | — |
| RS1571819324 | Health Risk | Likely pathogenic | — |
| RS1571819975 | Health Risk | Likely pathogenic | Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1B, Dejerine-Sottas disease |
| RS1571820143 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1670228122 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Peripheral neuropathy |
| RS1670244293 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1670257221 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1670288801 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS201720099 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B |
| RS2102258343 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B |
| RS2102259270 | Health Risk | Likely pathogenic | — |
| RS2102260015 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2102260097 | Health Risk | Likely pathogenic | Motor neuron disease, Motor neuron disease |
| RS2102260263 | Health Risk | Likely pathogenic | Peripheral neuropathy, Charcot-Marie-Tooth disease, type I |
| RS2526235696 | Health Risk | Likely pathogenic | Dejerine-Sottas disease, Dejerine-Sottas disease |
| RS2526237995 | Health Risk | Likely pathogenic | Roussy-Lévy syndrome, Roussy-Lévy syndrome |
| RS2526244215 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease dominant intermediate D |
| RS267607243 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS281865121 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Dejerine-Sottas disease, Charcot-Marie-Tooth disease |
| RS281865123 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I |
| RS754516430 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease dominant intermediate D |
| RS879253858 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1017715903 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS1060503420 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |