gap junction protein alpha 1
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The GJA1 gene provides instructions for making a protein called gap junction alpha-1 protein. Because this protein is one of a large family of connexin proteins, it is commonly called connexin 43. Connexins play a role in cell-to-cell communication by forming channels, or gap junctions, on the surface of cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin 43 is important for the normal development and function of cells in many different tissues of the body, including the eyes, skin, bone, ears, and brain. Connexin 43 is also thought to play a role in coordinating muscle cell contractions, which helps the heart pump blood effectively.
Normal function
The GJA1 gene provides instructions for making a protein called gap junction alpha-1 protein. Because this protein is one of a large family of connexin proteins, it is commonly called connexin 43. Connexins play a role in cell-to-cell communication by forming channels, or gap junctions, on the surface of cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin 43 is important for the normal development and function of cells in many different tissues of the body, including the eyes, skin, bone, ears, and brain. Connexin 43 is also thought to play a role in coordinating muscle cell contractions, which helps the heart pump blood effectively.
Conditions referring to this gene or chromosome
Other names
connexin 43
CX43
Cx43α1
gap junction protein, alpha 1, 43kDa
gap junction protein, alpha-like
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Leitura adicional e referências
- gap junction protein alpha 1; MedlinePlus, National Library of Medicine.
- Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
- Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. doi: 10.1016/j.ejmg.2005.05.003.
- Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.
- Moorer MC, Hebert C, Tomlinson RE, Iyer SR, Chason M, Stains JP. Defective signaling, osteoblastogenesis and bone remodeling in a mouse model of connexin 43 C-terminal truncation. J Cell Sci. 2017 Feb 1;130(3):531-540. doi: 10.1242/jcs.197285. Epub 2017 Jan 3.
- Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.
- Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606.
- Richardson R, Donnai D, Meire F, Dixon MJ. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan;41(1):60-7. doi: 10.1136/jmg.2003.012005. No abstract available.
- Talbot J, Brion R, Lamora A, Mullard M, Morice S, Heymann D, Verrecchia F. Connexin43 intercellular communication drives the early differentiation of human bone marrow stromal cells into osteoblasts. J Cell Physiol. 2018 Feb;233(2):946-957. doi: 10.1002/jcp.25938. Epub 2017 May 23.
- van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M, Steijlen PM, van Geel M. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412.
- Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28.
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