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Myelin-related components, Other

Laboratory / DiagnosticsOMIM 312080
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Overview

From WUSTL Neuromuscular

Peripheral myelin protein 2 (PMP2) Myelin and Lymphocyte protein (MAL) family Connexin-32 4 hydrophobic transmembrane domains Disease: CMT-X Proteolipid protein/DM20 Mostly CNS 4 hydrophobic transmembrane domains (4-TM): Homology to PMP-22 Most abundant protein in CNS myelin Rabbit disorder: Paralytic tremor Human disorders: Pelizaeus-Merzbacher & Spastic paraparesis Plasmolipin Brain & Kidney 4 hydrophobic transmembrane domains (4-TM) Forms K+ specific, voltage-dependent channels when added to lipid bilayers Myelin vesicular protein (MVP17; Myelin and lymphocyte protein; MAL) Distribution: Br

OMIM Entries

OMIM #312080OMIM #188860OMIM #159430OMIM #601326OMIM #604475

Related Conditions

Shared genes
CMT IA
PMP-22GENETM

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.