proline rich transmembrane protein 2
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The PRRT2 gene provides instructions for making the proline-rich transmembrane protein 2 (PRRT2). This protein is found in nerve cells (neurons) in the brain, and it helps regulate signaling from neuron to neuron. Communication between neurons depends on chemicals called neurotransmitters. Neurotransmitters are contained in compartments (vesicles) inside the nerve cell and are released from one neuron and taken up by neighboring neurons. The release of neurotransmitters is controlled by many processes. The flow of charged atoms (ions) into the neuron through ion channels generates and transmits electrical signals that stimulate and coordinate neurotransmitter release. In addition, the vesicles carrying neurotransmitters join (fuse) with the cell membrane to release the chemicals into the junction between neurons (the synapse).
Normal function
The PRRT2 gene provides instructions for making the proline-rich transmembrane protein 2 (PRRT2). This protein is found in nerve cells (neurons) in the brain, and it helps regulate signaling from neuron to neuron. Communication between neurons depends on chemicals called neurotransmitters. Neurotransmitters are contained in compartments (vesicles) inside the nerve cell and are released from one neuron and taken up by neighboring neurons. The release of neurotransmitters is controlled by many processes. The flow of charged atoms (ions) into the neuron through ion channels generates and transmits electrical signals that stimulate and coordinate neurotransmitter release. In addition, the vesicles carrying neurotransmitters join (fuse) with the cell membrane to release the chemicals into the junction between neurons (the synapse).
The PRRT2 protein interacts with several proteins inside neurons that take part in the process of neurotransmitter release. PRRT2 is thought to affect the function of several types of ion channels. In addition, the PRRT2 protein impedes the formation of a group of proteins called the SNARE complex that helps vesicles fuse with the cell membrane. Through these roles, the PRRT2 protein helps regulate signaling in the brain.
Conditions referring to this gene or chromosome
Other names
dispanin subfamily B member 3
DKFZp547J199
DSPB3
EKD1
FLJ25513
IFITMD1
interferon induced transmembrane protein domain containing 1
PKC
proline-rich transmembrane protein 2
PRRT2_HUMAN
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Leitura adicional e referências
- proline rich transmembrane protein 2; MedlinePlus, National Library of Medicine.
- Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008.
- Coleman J, Jouannot O, Ramakrishnan SK, Zanetti MN, Wang J, Salpietro V, Houlden H, Rothman JE, Krishnakumar SS. PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. Cell Rep. 2018 Jan 16;22(3):820-831. doi: 10.1016/j.celrep.2017.12.056.
- Dale RC, Gardiner A, Antony J, Houlden H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol. 2012 Oct;54(10):958-60. doi: 10.1111/j.1469-8749.2012.04394.x. Epub 2012 Jul 31.
- Ferrante D, Sterlini B, Prestigio C, Marte A, Corradi A, Onofri F, Tortarolo G, Vicidomini G, Petretto A, Muia J, Thalhammer A, Valente P, Cingolani LA, Benfenati F, Baldelli P. PRRT2 modulates presynaptic Ca2+ influx by interacting with P/Q-type channels. Cell Rep. 2021 Jun 15;35(11):109248. doi: 10.1016/j.celrep.2021.109248.
- Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F. PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051.
- Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17.
- Landolfi A, Barone P, Erro R. The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Front Neurol. 2021 Mar 4;12:629747. doi: 10.3389/fneur.2021.629747. eCollection 2021.
- Liu XR, Huang D, Wang J, Wang YF, Sun H, Tang B, Li W, Lai JX, He N, Wu M, Su T, Meng H, Shi YW, Li BM, Tang BS, Liao WP. Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene. Neurol Genet. 2016 Mar 22;2(2):e66. doi: 10.1212/NXG.0000000000000066. eCollection 2016 Apr.
- Meneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E. PRRT2 mutations and paroxysmal disorders. Eur J Neurol. 2013 Jun;20(6):872-8. doi: 10.1111/ene.12104. Epub 2013 Feb 9.
- Riant F, Roze E, Barbance C, Meneret A, Guyant-Marechal L, Lucas C, Sabouraud P, Trebuchon A, Depienne C, Tournier-Lasserve E. PRRT2 mutations cause hemiplegic migraine. Neurology. 2012 Nov 20;79(21):2122-4. doi: 10.1212/WNL.0b013e3182752cb8. Epub 2012 Oct 17.
- Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Muller S, Neubauer B, Pust B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11.
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