Calcineurin A è un gene codificato dal simbolo PPP3CA. Altri nomi includono: 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 ha una massa di 58.69kDa, una lunghezza di amminoacidi di 521, ed è implicato nella malattia: Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.
Offriamo 8 anticorpi contro Calcineurin A, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo, Ratto, Coniglio e Cane.
Informazioni su geni e proteine
Riepilogo 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).
Specificità del tessuto
Expressed in keratinocytes (at protein level).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the PPP phosphatase family. PP-2B subfamily.
Posizione cellulare
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).
