Neuromuscular HOMEepAGE

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Nuclear Protein Disorders: Envelope & Matrix

Autosomal RecessiveSystemic/MultisystemOMIM 600024

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Overview

From WUSTL Neuromuscular

Nuclear envelope: General Membrane: Separates nucleus from cytoplasm. Layers: Inner & Outer Nuclear pore complexes (NPCs) Location: Regions of inner & outer nuclearmembrane fusion Embedded in nuclear envelope Components Multiprotein subcomplexes: Form cylindrical ring structure Anchored in membrane via 3 transmembrane nucleoporins: NDC1, POM121, GP2101 Functions Facilitate nucleocytoplasmic transport of proteins Transcriptional regulation Chromatin organization Mitotic progression Antibodies Lamin disorders Transmembrane nuclear proteins Emerin Emery-Dreifuss muscular dystrophy 1 (EDMD 1) Lami

OMIM Entries

OMIM #600024 OMIM #169400 OMIM #607844 OMIM #166700 OMIM #155950 OMIM #610115 OMIM #604478 OMIM #606480 OMIM #188380 OMIM #605815 OMIM #271930 OMIM #607723 OMIM #613569 OMIM #605204 OMIM #128100

Related Conditions

Shared genes

Distal infantile spinal muscular atrophy with diaphragm paralysis (HMNR1; DSMA1; SMARD1; HMN 6)

CMT2SIGHMBP2CMT2

EGR2 mutations: CMT 1D & Other phenotypes

HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)

Neuropathy: CMT Genes & Drugs

Recessive, Axonal CMT

External Resources

WUSTL Neuromuscular

Washington University Disease Center

Online Mendelian Inheritance in Man

Biomedical Literature

NCBI Expert-Authored Reviews

Portal for Rare Diseases

National Organization for Rare Disorders

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