Calmodulin/Myosin light chain/Troponin C-like AI
Short name | CALM/Myosin/TropC-like AI |
Overlapping homologous superfamilies |
Description
References
1.Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bonnemann CG, Ottenheijm CA. J Clin Invest 131, 145700, (2021). View articlePMID: 33755597
2.Cloning and expression of calglandulin, a new EF-hand protein from the venom glands of Bothrops insularis snake in E. coli. Junqueira-de-Azevedo Ide L, Pertinhez T, Spisni A, Carreno FR, Farah CS, Ho PL. Biochim Biophys Acta 1648, 90-8, (2003). PMID: 12758151
3.A family of conserved bacterial virulence factors dampens interferon responses by blocking calcium signaling. Alphonse N, Wanford JJ, Voak AA, Gay J, Venkhaya S, Burroughs O, Mathew S, Lee T, Evans SL, Zhao W, Frowde K, Alrehaili A, Dickenson RE, Munk M, Panina S, Mahmood IF, Llorian M, Stanifer ML, Boulant S, Berchtold MW, Bergeron JRC, Wack A, Lesser CF, Odendall C. Cell 185, 2354-2369.e17, (2022). View articlePMID: 35568036
4.The ER-Localized Transmembrane Protein EPG-3/VMP1 Regulates SERCA Activity to Control ER-Isolation Membrane Contacts for Autophagosome Formation. Zhao YG, Chen Y, Miao G, Zhao H, Qu W, Li D, Wang Z, Liu N, Li L, Chen S, Liu P, Feng D, Zhang H. Mol Cell 67, 974-989.e6, (2017). View articlePMID: 28890335
5.Genetic Mosaicism in Calmodulinopathy. Wren LM, Jimenez-Jaimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr. Circ Genom Precis Med 12, 375-385, (2019). View articlePMID: 31454269
6.Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullee H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F. Hum Mol Genet 27, 4263-4272, (2018). View articlePMID: 30215711
Contributing Member Database Entry
- PANTHER:PTHR23048