Ask about this productRelated genes to: ATP2C1 antibody
- Gene:
- ATP2C1 NIH gene
- Name:
- ATPase secretory pathway Ca2+ transporting 1
- Previous symbol:
- BCPM
- Synonyms:
- KIAA1347, ATP2C1A, PMR1, SPCA1
- Chromosome:
- 3q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-09-19
- Date modifiied:
- 2016-10-05
Related products to: ATP2C1 antibody
Related articles to: ATP2C1 antibody
- - Source: PubMed
Publication date: 2026/04/08
Fujita YasuyukiIgawa SatomiKobayashi YukiKishibe Mari - Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by blisters and erosions in skin folds, significantly impairing patients' quality of life. HHD is caused by mutations in the ATP2C1 gene, which encodes the calcium transport protein SPCA1. Approximately 290 unique mutations have been identified to date; however, data remain scarce regarding mutations affecting patients in certain areas of Europe. The aim of this study was to analyze the ATP2C1 gene in a cohort of Spanish patients with HHD and to explore a possible genotype-phenotype correlation. We detected 10 mutations, including 9 unique variants, of which 6 were classified as likely pathogenic and 5 were novel. Additionally, we identified 3 novel variants of uncertain significance with a probable causal role. Our results expand the knowledge of genetic heterogeneity in European patients with HHD and identify new variants not previously reported. - Source: PubMed
Publication date: 2026/03/17
Antoñanzas JSalido-Vallejo REspaña APatiño-García AAguado L - Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Conflicting data exist regarding associated phenotypes, and little is known of its genetic aetiology. - Source: PubMed
Publication date: 2026/02/18
Motelow Joshua EMalakar AyanKrishna Murthy Sarath BabuVerbitsky MiguelKahn AtlasEstrella EliciaShao WanqingKunkel LouisWiesenhahn MadelynBeckett JaimeeHarris NatashaLee RichardAdam RosalynBarbour Kamil EHakonarson HakonLuo YuanWeng ChunhuaMendelsohn Cathy LKiryluk KrzysztofGharavi Ali GBrownstein Catherine A - Hailey-Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. - Source: PubMed
Publication date: 2026/01/07
Antoñanzas JavierEspaña AgustínGorostidi AnaPatiño-García AnaAraúzo-Bravo Marcos JGerovska DanielaSalido-Vallejo RafaelAguado-Gil Leyre - Hailey Hailey Disease (HHD) is an autosomal dominant cutaneous disorder caused by mutations in , the gene encoding the Golgi/secretory pathway Ca-ATPase SPCA1. Characterized by suprabasal acantholysis and intertriginous blistering of the skin, HHD treatment focuses on managing symptoms as there is no cure. Challenges to targeted therapy are due to the lack of facile and reliable models, both human and rodent, for mechanistic studies. Here we validate and characterize CRISPR/Cas9 mediated single and bi-allelic knockouts in immortalized human hTERT keratinocytes. Whereas SPCA1 expression, Golgi morphology and Golgi Ca accumulation were proportionately affected in heterozygous and homozygous null mutants as expected, both single and double allelic mutants showed near complete loss of cadherins associated with desmosomal and adherens junctions. HHD is characterized by poor wound healing and impaired keratinocyte migration. We show that SPCA1 is required for dynamic reorganization of actin cytoskeleton in keratinocyte spreading. We identified an insulin activated PI3K-AKT-Rac1 signaling pathway required for lamellipodia formation and keratinocyte spreading, defective in SPCA1 mutants. Transgenic expression of hSPCA1 or treatment with CDN1163, a small molecule Ca-ATPase agonist, restored defective phenotypes in the HHD model, paving the way for future therapeutic approaches to treat this disorder. - Source: PubMed
Publication date: 2025/12/17
Gupta RubyChinchole AkashPaul Ngozi PSarkar Mrinal KGudjonsson Johann EVerma AjayRao Rajini