arginine-glutamic acid dipeptide repeats
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El RERE gene provides instructions for making a protein that is critical for normal development before birth. This protein interacts with other proteins called transcription factors, which control the activity (transcription) of particular genes. The RERE protein helps these transcription factors turn on (activate) and turn off (repress) a number of genes important for early development, ensuring that the genes are activated (expressed) at the right time and place for proper tissue formation. Research indicates that the RERE protein plays a role in the development of the brain, eyes, inner ear, heart, and kidneys.
Normal function
El RERE gene provides instructions for making a protein that is critical for normal development before birth. This protein interacts with other proteins called transcription factors, which control the activity (transcription) of particular genes. The RERE protein helps these transcription factors turn on (activate) and turn off (repress) a number of genes important for early development, ensuring that the genes are activated (expressed) at the right time and place for proper tissue formation. Research indicates that the RERE protein plays a role in the development of the brain, eyes, inner ear, heart, and kidneys.
Conditions referring to this gene or chromosome
Otros nombres
ARG
arginine-glutamic acid dipeptide (RE) repeats
arginine-glutamic acid repeats-encoding gene
ARP
ATN1L
atrophin 2
atrophin-1 like protein
atrophin-1 related protein
atrophn-related protein
deleted in neuroblastoma-1
DNB1
KIAA0458
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Lecturas adicionales y referencias
- arginine-glutamic acid dipeptide repeats; MedlinePlus, National Library of Medicine.
- Fregeau B, Kim BJ, Hernandez-Garcia A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Baranano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.
- Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.
- Kim BJ, Scott DA. Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells. PLoS One. 2014 Jan 23;9(1):e87518. doi: 10.1371/journal.pone.0087518. eCollection 2014.
- Kim BJ, Zaveri HP, Jordan VK, Hernandez-Garcia A, Jacob DJ, Zamora DL, Yu W, Schwartz RJ, Scott DA. RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects. Dis Model Mech. 2018 Aug 28;11(9):dmm031534. doi: 10.1242/dmm.031534.
- Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernandez-Garcia A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013;8(2):e57460. doi: 10.1371/journal.pone.0057460. Epub 2013 Feb 25.
- Vilhais-Neto GC, Maruhashi M, Smith KT, Vasseur-Cognet M, Peterson AS, Workman JL, Pourquie O. Rere controls retinoic acid signalling and somite bilateral symmetry. Nature. 2010 Feb 18;463(7283):953-7. doi: 10.1038/nature08763.
- Zoltewicz JS, Stewart NJ, Leung R, Peterson AS. Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis. Development. 2004 Jan;131(1):3-14. doi: 10.1242/dev.00908. Epub 2003 Nov 26.
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