Anti-CALM2 Polyclonal Antibody-抗體-抗體-生物在線
北京索萊寶科技有限公司--實驗室產品
Anti-CALM2 Polyclonal Antibody

Anti-CALM2 Polyclonal Antibody

商家詢價

產品名稱: Anti-CALM2 Polyclonal Antibody

英文名稱: CAMII;LQT15;PHKD;PHKD2;caM

產品編號: K005618P

產品價格: null

產品產地: 北京

品牌商標: Solarbio

更新時間: null

使用范圍: WB

北京索萊寶科技有限公司--實驗室產品
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This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms.