Recombinant Human ESS2 Protein, GST-tagged

• Cat.No.: ESS2-2562H
• Product Overview: Human DGCR14 full-length ORF ( AAH37829.1, 1 a.a. - 395 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• Description: This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
• Molecular Mass: 67 kDa
• AA Sequence: MLGACFPNLSSGDVMVFGPGGLGQPVLHPVLVLGHHQQPVLGFGSKLVVGPVVGPQACLGVQFALSAVLALPLPLEGGRRRGFGLGGLQPRVAEDLIDVEPLADVGLQHAVDEVLALAGQVLGAREVHTVLLLDTQHLPDVGVVIGHGAADHDVQDHAQAPDVIHLGLVGDALQHLGGCICCRPAEGLAEDDAPIAVPQAALGEAKVRQLDVEVLVEEKVLALEVPVDDVQVVAVLDGGGELSEHLACHVLMQGSLALDELEKRLAPLPSTSPRHVGQQALSSFTLPEASGWAALGWASTQGWDTQHCLRVTSANELIKPRSGGGDWAEGEQGLWNRGSQAGLAGAPTPRPLEGSLSPGQDSGGPAAAALVSLSQVKLEGRRPTSSLFASPGCGD
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: ESS2 ess-2 splicing factor homolog [ Homo sapiens (human) ]
• Official Symbol: ESS2
• Synonyms: ESS2; ess-2 splicing factor homolog; DGCR14; DiGeorge syndrome critical region gene 14; DGCR13, DiGeorge syndrome critical region gene 13; protein DGCR14; DGS H; DGSI; ES2; Es2el; Protein DGCR13; DiGeorge syndrome gene H; DiGeorge syndrome gene I; diGeorge syndrome protein H; diGeorge syndrome critical region 13; diGeorge syndrome critical region 14; DiGeorge syndrome critical region gene 13; DiGeorge syndrome critical region gene DGSI; DGSH; DGS-H; DGS-I; DGCR13
• Gene ID: 8220
• mRNA Refseq: NM_022719
• Protein Refseq: NP_073210
• MIM: 601755
• UniProt ID: Q96DF8