Anti SMCHD1 pAb (ATL-HPA039441 w/enhanced validation)

Atlas Antibodies

Catalog No.: ATL-HPA039441-25

Protein Description: structural maintenance of chromosomes flexible hinge domain containing 1
Gene Name: SMCHD1
Alternative Gene Name: KIAA0650
Isotype: IgG
Interspecies mouse/rat: ENSMUSG00000024054: 97%, ENSRNOG00000014319: 98%
Entrez Gene ID: 23347
Uniprot ID: A6NHR9
Buffer: 40% glycerol and PBS (pH 7.2). 0.02% sodium azide is added as preservative.
Storage Temperature: Store at +4°C for short term storage. Long time storage is recommended at -20°C.

Product Specifications

• Application: WB, ICC, IHC
• Reactivity: Human
• Clonality: Polyclonal
• Host: Rabbit
• Immunogen: DNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKED
• Gene Sequence: DNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKED
• Gene ID - Mouse: ENSMUSG00000024054
• Gene ID - Rat: ENSRNOG00000014319
• Buffer: 40% glycerol and PBS (pH 7.2). 0.02% sodium azide is added as preservative.

Citations for Anti SMCHD1 pAb (ATL-HPA039441 w/enhanced validation) – 7 Found

Gurzau, Alexandra D; Chen, Kelan; Xue, Shifeng; Dai, Weiwen; Lucet, Isabelle S; Ly, Thanh Thao Nguyen; Reversade, Bruno; Blewitt, Marnie E; Murphy, James M. FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. The Journal Of Biological Chemistry. 2018;293(25):9841-9853. 

Wang, Chen-Yu; Jégu, Teddy; Chu, Hsueh-Ping; Oh, Hyun Jung; Lee, Jeannie T. SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X. Cell. 2018;174(2):406-421.e25. 

Hiramuki, Yosuke; Tapscott, Stephen J. Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage. Skeletal Muscle. 2018;8(1):24. 

Wang, Chen-Yu; Colognori, David; Sunwoo, Hongjae; Wang, Danni; Lee, Jeannie T. PRC1 collaborates with SMCHD1 to fold the X-chromosome and spread Xist RNA between chromosome compartments. Nature Communications. 2019;10(1):2950. 

Xue, Shifeng; Ly, Thanh Thao Nguyen; Vijayakar, Raunak S; Chen, Jingyi; Ng, Joel; Mathuru, Ajay S; Magdinier, Frederique; Reversade, Bruno. HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring. Nature Communications. 2022;13(1):3583. 

Lemmers, Richard J L F; Tawil, Rabi; Petek, Lisa M; Balog, Judit; Block, Gregory J; Santen, Gijs W E; Amell, Amanda M; van der Vliet, Patrick J; Almomani, Rowida; Straasheijm, Kirsten R; Krom, Yvonne D; Klooster, Rinse; Sun, Yu; den Dunnen, Johan T; Helmer, Quinta; Donlin-Smith, Colleen M; Padberg, George W; van Engelen, Baziel G M; de Greef, Jessica C; Aartsma-Rus, Annemieke M; Frants, Rune R; de Visser, Marianne; Desnuelle, Claude; Sacconi, Sabrina; Filippova, Galina N; Bakker, Bert; Bamshad, Michael J; Tapscott, Stephen J; Miller, Daniel G; van der Maarel, Silvère M. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics. 2012;44(12):1370-4. 

Gaillard, Marie-Cécile; Puppo, Francesca; Roche, Stéphane; Dion, Camille; Campana, Emmanuelle Salort; Mariot, Virginie; Chaix, Charlene; Vovan, Catherine; Mazaleyrat, Killian; Tasmadjian, Armand; Bernard, Rafaelle; Dumonceaux, Julie; Attarian, Shahram; Lévy, Nicolas; Nguyen, Karine; Magdinier, Frédérique; Bartoli, Marc. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Bmc Medical Genetics. 2016;17(1):66.