MPZ

myelin protein zero

5 disorders 3 untyped 2 causative 1q23.3 gene with protein product

HGNC:7225 Monarch NCBI Gene 4359 ENSG00000158887 UniProt P25189 OMIM 159440

Previous symbols: CMT1, CMT1B. Aliases: HMSNIB, CMT2I, CMT2J, P0.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Hypomyelinating Neuropathy	causative germline	mechanism: Myelin Protein Mistrafficking and Loss of Surface Adhesion; Myelination Gene Lesion in Developing Schwann Cells subtype: CHN2 scoped to subtype: CHN2
Intermediate Charcot-Marie-Tooth Disease	causative germline	mechanism: MPZ Compact-Myelin Structural Defect subtype: DI-CMTD scoped to subtype: DI-CMTD
Charcot-Marie-Tooth Disease	untyped Causal
Charcot-Marie-Tooth Disease Type 1	untyped Causal	mechanism: MPZ Misfolding and Schwann Cell ER Stress subtype: CMT1B scoped to subtype: CMT1B
Charcot-Marie-Tooth Disease Type 2	untyped Causative	subtype: CMT2I/J scoped to subtype: CMT2I/J

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Charcot-Marie-Tooth disease MONDO:0015626	AD	Definitive 2020-08-25	Charcot-Marie-Tooth Disease untyped

Mechanism modules · computed from kb/

schwann_cell_myelin_maintenance via Charcot-Marie-Tooth Disease Type 1, Congenital Hypomyelinating Neuropathy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.