Anti-LMOD3 Antibody Picoband® fluoro594 Vervoeging

Leiomodin-3 is a protein that in humans is encoded by the LMOD3 gene. The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2) . Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder.

LMOD3; Leiomodin-3; Leiomodin, fetal form

LMOD3

56203

Q0VAK6

Human, Mouse, Rat

No cross-reactivity with other proteins

E.coli-derived human LMOD3 recombinant protein (Position: D45-E558) . Human LMOD3 shares 72.2% amino acid (aa) sequence identity with mouse LMOD3.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Abbott, M., Jain, M., Pferdehirt, R., Chen, Y., Tran, A., Duz, M. B., Seven, M., Gibs, R. A., Muzny, D., Lee, B., Marom, R., Burrage, L. C. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am. J. Med. Genet. 173A: 2789-2794, 2017. 2. Hartz, P. A. Personal Communication. Baltimore, Md. 12/1/2014. 3. Schatz, U. A, Weiss, S., Wenninger, S., Schoser, B., Muss, W. H., Bittner, R. E., Schmidt, W. M., Schossig, A. S., Rudnik-Schoneborn, S., Baumann, M. Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. Neurology 91: e1690-e1694, 2018.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

65 kDa

6

Leiomodin 3

Leiomodin-3

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.