2vay: Difference between revisions
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{{STRUCTURE_2vay| PDB=2vay | SCENE= }} | {{STRUCTURE_2vay| PDB=2vay | SCENE= }} | ||
===CALMODULIN COMPLEXED WITH CAV1.1 IQ PEPTIDE=== | |||
{{ABSTRACT_PUBMED_19473981}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CAC1S_HUMAN CAC1S_HUMAN]] Defects in CACNA1S are the cause of periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:[http://omim.org/entry/170400 170400]]; also designated HYPOPP. HOKPP1 is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.<ref>PMID:8004673</ref><ref>PMID:7987325</ref><ref>PMID:18162704</ref><ref>PMID:17418573</ref><ref>PMID:19118277</ref> Genetic variations in CACNA1S are the cause of susceptibility to malignant hyperthermia 5 (MHS5) [MIM:[http://omim.org/entry/601887 601887]]; an autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants.<ref>PMID:9199552</ref> Defects in CACNA1S are the cause of susceptibility to thyrotoxic periodic paralysis type 1 (TTPP1) [MIM:[http://omim.org/entry/188580 188580]]. A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.<ref>PMID:15001631</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CAC1S_HUMAN CAC1S_HUMAN]] Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019473981</ref><references group="xtra"/> | <ref group="xtra">PMID:019473981</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Black, D J.]] | [[Category: Black, D J.]] | ||