RGD Reference Report - MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. - Rat Genome Database

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MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.

Authors: Abbott, GW  Butler, MH  Bendahhou, S  Dalakas, MC  Ptacek, LJ  Goldstein, SA 
Citation: Abbott GW, etal., Cell. 2001 Jan 26;104(2):217-31.
RGD ID: 1600040
Pubmed: PMID:11207363   (View Abstract at PubMed)

The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4. MiRP2-Kv3.4 channels differ from Kv3.4 channels in unitary conductance, voltage-dependent activation, recovery from inactivation, steady-state open probability, and block by a peptide toxin. Thus, MiRP2-Kv3.4 channels set resting membrane potential (RMP) and do not produce afterhyperpolarization or cumulative inactivation to limit action potential frequency. A missense mutation is identified in the gene for MiRP2 (KCNE3) in two families with periodic paralysis and found to segregate with the disease. Mutant MiRP2-Kv3.4 complexes exhibit reduced current density and diminished capacity to set RMP. Thus, MiRP2 operates with a classical potassium channel subunit to govern skeletal muscle function and pathophysiology.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
KCNE3Humanhypokalemic periodic paralysis  IAGP  RGD 
Kcne3Rathypokalemic periodic paralysis  ISOKCNE3 (Homo sapiens) RGD 
Kcne3Mousehypokalemic periodic paralysis  ISOKCNE3 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kcne3  (potassium voltage-gated channel subfamily E regulatory subunit 3)

Genes (Mus musculus)
Kcne3  (potassium voltage-gated channel, Isk-related subfamily, gene 3)

Genes (Homo sapiens)
KCNE3  (potassium voltage-gated channel subfamily E regulatory subunit 3)


Additional Information