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- CLCN1 abstract "The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen).Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene. Mutations in this protein cause congenital myotonia.CLCN1 is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of ions into and out of muscle cells. CLCN1 forms an ion channel that controls the flow of negatively charged chloride ions into these cells. The main function of this channel is to stabilize the cells' electrical charge, enabling muscles to contract normally.In people with congenital myotonia due to a mutation in CLCN1, the ion channel admits too few chloride ions into the cell. This shortage of chloride ions causes prolonged muscle contractions, which are the hallmark of myotonia.".
- CLCN1 entrezgene "1180".
- CLCN1 wikiPageExternalLink br.fcgi?book=gene&part=myotonia-c.
- CLCN1 wikiPageID "14150059".
- CLCN1 wikiPageLength "8755".
- CLCN1 wikiPageOutDegree "8".
- CLCN1 wikiPageRevisionID "673171870".
- CLCN1 wikiPageWikiLink Category:Ion_channels.
- CLCN1 wikiPageWikiLink Chloride_channel.
- CLCN1 wikiPageWikiLink Gene.
- CLCN1 wikiPageWikiLink Ion.
- CLCN1 wikiPageWikiLink Ion_channel.
- CLCN1 wikiPageWikiLink Myotonia_congenita.
- CLCN1 wikiPageWikiLink Protein.
- CLCN1 wikiPageWikiLinkText "CLCN1".
- CLCN1 wikiPageWikiLinkText "skeletal muscle chloride channel".
- CLCN1 requireManualInspection "no".
- CLCN1 summaryText "The CLCN family of voltage-dependent chloride channel genes comprises nine members which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita and dominant myotonia .".
- CLCN1 updateCitations "yes".
- CLCN1 updatePage "yes".
- CLCN1 updateProteinBox "yes".
- CLCN1 updateSummary "yes".
- CLCN1 wikiPageUsesTemplate Template:Cite_journal.
- CLCN1 wikiPageUsesTemplate Template:Gene-7-stub.
- CLCN1 wikiPageUsesTemplate Template:Ion_channels.
- CLCN1 wikiPageUsesTemplate Template:MeshName.
- CLCN1 wikiPageUsesTemplate Template:NLM_content.
- CLCN1 wikiPageUsesTemplate Template:PBB.
- CLCN1 wikiPageUsesTemplate Template:PBB_Controls.
- CLCN1 wikiPageUsesTemplate Template:PBB_Further_reading.
- CLCN1 wikiPageUsesTemplate Template:PBB_Summary.
- CLCN1 wikiPageUsesTemplate Template:Refbegin.
- CLCN1 wikiPageUsesTemplate Template:Refend.
- CLCN1 wikiPageUsesTemplate Template:Reflist.
- CLCN1 subject Category:Ion_channels.
- CLCN1 type Biomolecule.
- CLCN1 type Protein.
- CLCN1 type Biophysic.
- CLCN1 type Channel.
- CLCN1 type Institute.
- CLCN1 type Source.
- CLCN1 type Thing.
- CLCN1 type Q206229.
- CLCN1 type Q8054.
- CLCN1 comment "The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane.".
- CLCN1 label "CLCN1".
- CLCN1 sameAs Q17862020.
- CLCN1 sameAs CLCN1.
- CLCN1 sameAs m.03cw4hh.
- CLCN1 sameAs Хлоридный_канал_1.
- CLCN1 sameAs Q17862020.
- CLCN1 wasDerivedFrom CLCN1?oldid=673171870.
- CLCN1 isPrimaryTopicOf CLCN1.