This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012].
Farnsworth, Walter, Piscopio, Schleicher, Benninger: "Exendin-4 overcomes cytokine-induced decreases in gap junction coupling via protein kinase A and Epac2 in mouse and human islets." in: The Journal of physiology, Vol. 597, Issue 2, pp. 431-447, (2019) (PubMed).
Moore, Zhou, Sirois, Belinsky, Zecevic, Antic: "Connexin hemichannels contribute to spontaneous electrical activity in the human fetal cortex." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 111, Issue 37, pp. E3919-28, (2014) (PubMed).
de Brouwer, Pennings, Roeters, Van Hauwe, Astuto, Hoefsloot, Huygen, van den Helm, Deutman, Bork, Kimberling, Cremers, Cremers, Kremer: "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family." in: Human genetics, Vol. 112, Issue 2, pp. 156-63, (2003) (PubMed).
Aliases for GJD2 抗体
gap junction protein delta 2 (GJD2) 抗体 gap junction protein, delta 2 (Gjd2) 抗体 gap junction protein delta 2 (Gjd2) 抗体 connexin36 抗体 Cx35.1 抗体 CX36 抗体 Cx36 抗体 cx36 抗体 GJA9 抗体 Gja9 抗体 GJD2 抗体