Calcineurin A est un gène codé par le symbole PPP3CA. D'autres noms incluent: Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform; CAM-PRP catalytic subunit; Calmodulin-dependent calcineurin A subunit alpha isoform; PPP3CA; CALNA; CNA. Calcineurin A a une masse de 58.69kDa, une longueur d'acide aminé de 521, et est impliqué dans les maladies: Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.
Nous proposons 8 des anticorps contre Calcineurin A, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP avec des échantillons dérivés de Humain, Souris, Rat, Lapin et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of the substrates contain a PxIxIT motif and/or a LxVP motif (PubMed:17498738, PubMed:17502104, PubMed:23468591, PubMed:27974827, PubMed:22343722). In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation (PubMed:15671020). In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion (PubMed:18838687). Dephosphorylates heat shock protein HSPB1 (By similarity). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). In response to increased Ca(2+) levels, regulates NFAT-mediated transcription probably by dephosphorylating NFAT and promoting its nuclear translocation (PubMed:26248042). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138). May dephosphorylate CRTC2 at 'Ser-171' resulting in CRTC2 dissociation from 14-3-3 proteins (PubMed:30611118).
Spécificité tissulaire
Expressed in keratinocytes (at protein level).
Implication dans la maladie
Epileptic encephalopathy, infantile or early childhood, 1: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life.
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development: An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures.
Similitudes de séquence
Belongs to the PPP phosphatase family. PP-2B subfamily.
Localisation cellulaire
Cytoplasm. Cell membrane. Cell membrane > Sarcolemma. Cytoplasm > Myofibril > Sarcomere > Z line. Cell projection > Dendritic spine.
Colocalizes with ACTN1 and MYOZ2 at the Z line in heart and skeletal muscle (By similarity). Recruited to the cell membrane by scaffold protein AKAP5 following L-type Ca(2+)-channel activation (PubMed:22343722).
