(Coiled-Coil and C2 Domain Containing 1A (CC2D1A))
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009].
Usami, Popov, Weiss, Vriesema-Magnuson, Calistri, Göttlinger: "Regulation of CHMP4/ESCRT-III function in human immunodeficiency virus type 1 budding by CC2D1A." in: Journal of virology, Vol. 86, Issue 7, pp. 3746-56, (2012) (PubMed).
Nakamura, Arai, Fujita: "Centrosomal Aki1 and cohesin function in separase-regulated centriole disengagement." in: The Journal of cell biology, Vol. 187, Issue 5, pp. 607-14, (2009) (PubMed).
Rogaeva, Ou, Jafar-Nejad, Lemonde, Albert: "Differential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene." in: The Journal of biological chemistry, Vol. 282, Issue 29, pp. 20897-905, (2007) (PubMed).
Basel-Vanagaite, Attia, Yahav, Ferland, Anteki, Walsh, Olender, Straussberg, Magal, Taub, Drasinover, Alkelai, Bercovich, Rechavi, Simon, Shohat: "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation." in: Journal of medical genetics, Vol. 43, Issue 3, pp. 203-10, (2006) (PubMed).