(Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1))
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011].
Lemmers, Tawil, Petek, Balog, Block, Santen, Amell, van der Vliet, Almomani, Straasheijm, Krom, Klooster, Sun, den Dunnen, Helmer, Donlin-Smith, Padberg, van Engelen, de Greef, Aartsma-Rus, Frants et al.: "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. ..." in: Nature genetics, Vol. 44, Issue 12, pp. 1370-4, (2012) (PubMed).
Aliases for SMCHD1 抗体
SMC hinge domain containing 1 (Smchd1) 抗体 structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) 抗体 4931400A14Rik 抗体 AW554188 抗体 mKIAA0650 抗体 MommeD1 抗体