SCA6 PCRProber Kit for PCR detection
- Known as:
- SCA6 PCRProber Kit PCR test kit quantification
- Catalog number:
- 40-2040-32
- Product Quantity:
- 1Kit
- Category:
- -
- Supplier:
- Gene Link
- Gene target:
- SCA6 PCRProber Kit for PCR detection
Related genes to: SCA6 PCRProber Kit for PCR detection
- Gene:
- CACNA1A NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 A
- Previous symbol:
- CACNL1A4, SCA6, MHP1, MHP
- Synonyms:
- Cav2.1, EA2, APCA, HPCA, FHM
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1996-06-18
- Date modifiied:
- 2019-04-23
Related products to: SCA6 PCRProber Kit for PCR detection
Related articles to: SCA6 PCRProber Kit for PCR detection
- - Source: PubMed
Publication date: 2026/05/04
Iwami KosukeSato HankoShirai ShinichiYaguchi HiroakiOgata ShunsukeHamanaka KoheiMiyatake SatokoMatsumoto NaomichiYabe Ichiro - Pathological variants in neuronally expressed genes cause severe disorders, and therapeutic strategies often depend on understanding how these mutations alter protein function. For ion channels, patient variants are typically characterized biophysically in heterologous expression systems. Here we describe a patient variant in CACNA1A, which encodes the P/Q-type calcium channel CaV2.1, for which heterologous assays obscure a potent functional impact. Mutations in CACNA1A underlie a spectrum of neurological disorders traditionally classified as either loss-of-function (LoF) or gain-of-function (GoF). However, many patients present with overlapping phenotypes that defy this binary framework. Here we characterize a CACNA1A variant, D1634N, identified in a patient with a complex clinical presentation that includes both typically LoF and GoF symptoms. While biophysical characterization of this variant in HEK293T cells support a classic and severe LoF effect, including smaller current density and a right-shifted current/voltage relationship, characterization of the effect of this variant in demonstrates that it paradoxically leads to spontaneous synaptic vesicle release, despite reduced channel expression. Molecular dynamics modeling predicts that this mutation increases dwell time of the channel in a partially-open state, potentially leading to increased leak current at rest, a prediction confirmed with biophysical recordings at hyperpolarized potentials and rescue of the phenotype by genetically raising resting membrane potential. Together this data describes a complex, mixed function variant that explains the clinical presentation of the patient, highlights the importance of cellular context in variant interpretation, and establishes as a powerful tool for evaluating functional properties of pathological channel variants. - Source: PubMed
Publication date: 2026/04/29
Krawchuk Michael BTiroumalechetty AravenZuluaga-Forero MaximilianoAugustine AlexaDong YongmingJackson NichelleJen Joanna CSnell Heather DBai JihongSpray David CKurshan Peri T - Episodic ataxias (EA) comprise a heterogeneous group of genetic conditions with spells of gait difficulty and imbalance, for which the main causes are EA1 ( gene) and EA2 ( gene). While EA1 may respond to some antiepileptics and EA2 responds to acetazolamide, no guideline exists to inform decision-making in settings where genetic testing is unavailable. - Source: PubMed
Publication date: 2026/04/21
de Gusmao Claudio MGarcia Lucas H M RMink Jonathan WPaciorkowski Alex RPringsheim TamaraDella Ripa Bruno AssisRauffus Carolina SilvaCoan Ana CarolinaSilveira-Moriyama Laura - Episodic ataxia type 2 (EA2) is the most common subtype of episodic ataxia and is primarily caused by pathogenic variants in the gene. Although classically characterized by paroxysmal ataxia, -related disorders are increasingly recognized as an age-dependent phenotypic continuum that extends beyond episodic cerebellar dysfunction to include fluctuating weakness, persistent neurological signs, and neurodevelopmental impairments. - Source: PubMed
Publication date: 2026/03/31
Park SungyeonBae HyunwooKwon SoonhakLee Yun Jeong - CACNA1A encodes the Cav2.1 (P/Q-type) channel whose spectrum extends from FHM1/EA2/SCA6 to epilepsy and vertigo, but penetrance-especially sex differences-remains unclear. We report a three-generation family with CACNA1A c.5610del, detail electroclinical features, assess sex-stratified penetrance, and discuss individualised therapy. - Source: PubMed
Publication date: 2026/05/01
Long ZhongyuanGong ShuxianJi DongyanGuo XuanSui LisenYang XiaofengYu Jiabin