Anti-SERAC1 Antibody Picoband® fluoro550 Vervoeging

Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene. The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) . Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.

FERM domain-containing protein 6; Willin; FRMD6; C14orf31

SERAC1

84947

Q96JX3

Human, Mouse, Rat

No cross-reactivity with other proteins.

E.coli-derived human SERAC1 recombinant protein (Position: E97-H623) .

Expressed in fetal and adult brain. Also detected in fetal liver and skeletal muscle, but not in their adult counterparts.

Flow Cytometry

Growth Factors/Hormones, Signal Transduction

Immunogen affinity purified.

Liquid

Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. The H1F0 histones are found in cells that are in terminal stages of differentiation or that have low rates of cell division.

1. Hartz, P. A. Personal Communication. Baltimore, Md. 7/17/2012. 2. Lumish, H. S., Yang, Y., Xia, F., Wilson, A., Chung, W. K. The expanding MEGDEL phenotype: optic nerve atrophy, microcephaly, and myoclonic epilepsy in a child with SERAC1 mutations. JIMD Rep. 16: 75-79, 2014. 3. Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Baric, I., Bubshait, D. K., Burlina, A., Christodoulou, J., and 46 others. Progressive deafness-dystonia due to SERAC1 mutations: a study of 67 cases. Ann. Neurol. 82: 1004-1015, 2017.

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

6

FERM domain containing 6

Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm.

Rabbit IgG

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