Enhanced Validation

Anti-SMCHD1 Antibody

structural maintenance of chromosomes flexible hinge domain containing 1
Recommended Applications
Orthogonal validation of protein expression using WB by comparison to RNA-seq data of corresponding target in high and low expression cell lines.
Product Description
Polyclonal Antibody against Human SMCHD1
Alternative Gene Names
KIAA0650
Price
$445.00
Product Number
HPA039441
Unit Size
100 µl
Concentration
Lot dependent
Availability
10 in Stock
Ships
Ready to Ship
Target Protein
structural maintenance of chromosomes flexible hinge domain containing 1
Target Gene
SMCHD1
Antigen Sequence
Recombinant Protein Epitope Signature Tag (PrEST) antigen sequence
DNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKED
Verified Species Reactivity
Human
Interspecies Information

Highest antigen sequence identity to the following orthologs:

Rat ENSRNOG00000014319 (98%)

Mouse ENSMUSG00000024054 (97%)

Clonality
Polyclonal
Isotype
IgG
Host
Rabbit
Buffer
40% glycerol and PBS (pH 7.2). 0.02% sodium azide is added as preservative. Material Safety Data Sheet
Purification Method
Affinity purified using the PrEST antigen as affinity ligand
Notes
Gently mix before use. Optimal concentrations and conditions for each application should be determined by the user.
Unit Size
100 µl
Current Lot
Produced on demand. Contact support@atlasantibodies.com for more information.
Concentration
[This part should be hidden or updated after call to Current Batch]
Product Data Sheet
Immunohistochemistry (IHC)

Recommended conditions:

Dilution: 1:50 - 1:200

Retrieval method: HIER pH6

Western Blot (WB)

Recommended conditions:

Working concentration: 0.04-0.4 µg/ml

Immunofluorescence in Cell Lines (ICC-IF)

Recommended conditions:

Fixation/Permeabilization: PFA/Triton X-100

Working concentration: 0.25-2 µg/ml

Protocols
Western Blot (WB)

Orthogonal validation of protein expression using WB by comparison to RNA-seq data of corresponding target in high and low expression cell lines.

Protein Name
structural maintenance of chromosomes flexible hinge domain containing 1
Gene Name
SMCHD1
Alternative Gene Names
KIAA0650
UniProt ID
Gene (Ensembl)
Entrez Gene ID
Shipping
Normally shipped at ambient temperature
Storage
Store at +4°C for short term storage. Long time storage is recommended at -20°C.
Human Protein Atlas

This antibody has been used for staining of 44 normal human tissue samples as well as human cancer samples covering the 20 most common cancer types and up to 12 patients for each cancer type. The results are part of an ongoing effort to map the human proteome using antibodies.

All characterization data for ENSG00000101596 on the Human Protein Atlas

Hiramuki Y, Tapscott SJ

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage

Skelet Muscle , 2018 Aug 2; 8:24. Epub 2018 Aug 2

PubMed ID: 30071896 DOI: 10.1186/s13395-018-0172-z

Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TT, Reversade B, Blewitt ME, Murphy JM

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

J Biol Chem , 2018 May 10; 293(25):9841-9853. Epub 2018 May 10

PubMed ID: 29748383 DOI: 10.1074/jbc.RA118.003104

Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S M Teo, Michael L Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M Murphy, Chalermpong Chatdokmaiprai, Axel M Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Nature Genetics , January 09, 2017

DOI: 10.1038/ng.3765

Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, Magdinier F, Bartoli M

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BMC Med Genet , 2016 Sep 15; 17:66. Epub 2016 Sep 15

PubMed ID: 27634379 DOI: 10.1186/s12881-016-0328-9

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Nat Genet , 2012 Dec; 44(12):1370-1374. Epub 2012 Nov 11

PubMed ID: 23143600 DOI: 10.1038/ng.2454

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