Neuromuscular HOMEepAGE

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Axon: Transport

Autosomal RecessiveX-LinkedOther NeuromuscularOMIM 600986

View full entry on WUSTL Neuromuscular

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Overview

From WUSTL Neuromuscular

Disorders General substrates Types Anterograde Retrograde Synaptic regions General substrates Axons & Dendrites Microtubules Formed from association of dimers of α-tubulin and β-tubulin into protofilaments Protofilaments: Associate laterally to form a tubule Growth of polymer: Addition of tubulin subunits to plus end of filament Shortening of polymer: Subunit loss Dampening of microtubule dynamics in neurons: Microtubule-associated proteins (e.g., tau) Polarity of plus (Fast growing) end Axon & Distal dendrites: Distal Proximal dendrites: Mixed Microtubule orientation in proximal axon Determin

Associated Genes

transient receptor potential cation channel subfamily V member 4

Other genes: NUDEL, JNK, SYNAPTIC, SAP97, CARGO, ABC, CMT2A, LED, DYNC2H1, IDPN, CMT

OMIM Entries

OMIM #600986 OMIM #605995 OMIM #603060 OMIM #602591 OMIM #604683 OMIM #300521 OMIM #602821 OMIM #607350 OMIM #605037 OMIM #605664 OMIM #619433 OMIM #613231 OMIM #600112 OMIM #601143 OMIM #607376 OMIM #605143 OMIM #601580 OMIM #601572 OMIM #600778 OMIM #608773 OMIM #601545 OMIM #607538 OMIM #6000947 OMIM #603930 OMIM #607848 OMIM #604020 OMIM #123831 OMIM #601158 OMIM #165160 OMIM #600447 OMIM #102582 OMIM #605431 OMIM #160777 OMIM #606540 OMIM #600970 OMIM #601481 OMIM #602529 OMIM #611603 OMIM #605472 OMIM #613180 OMIM #191130 OMIM #615771 OMIM #612901 OMIM #613112 OMIM #615101 OMIM #615763 OMIM #612850 OMIM #610031 OMIM #600638 OMIM #614039 OMIM #602662 OMIM #128101 OMIM #602660 OMIM #617879 OMIM #191135 OMIM #615412 OMIM #604934 OMIM #241410 OMIM #604432 OMIM #609007 OMIM #607060 OMIM #104311 OMIM #607822 OMIM #157140 OMIM #600274 OMIM #172700 OMIM #601104 OMIM #260540 OMIM #168600 OMIM #603297 OMIM #263510 OMIM #613091 OMIM #615501 OMIM #607432 OMIM #609449 OMIM #605013 OMIM #614019 OMIM #602544 OMIM #600116 OMIM #608309 OMIM #605909 OMIM #602533 OMIM #606324 OMIM #104760 OMIM #104300 OMIM #605714 OMIM #163890 OMIM #168601 OMIM #613004 OMIM #143100 OMIM #604641 OMIM #125853

Related Conditions

Shared genes

Arthrogryposis Multiplex Congenita (AMC)

HEREDITARY ATAXIAS: DOMINANT

HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)

Neuropathy: CMT Genes & Drugs

Recessive, Axonal CMT

Scapular winging

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.