Product Name	EFTUD2
Chinese Name	延伸因子Binding proteinEFTUD2抗体
Alias	116 kDa; 116 kDa U5 small nuclear ribonucleoprotein component; EFTUD2; Elongation factor Tu GTP binding domain containing 2; Elongation factor Tu GTP-binding domain-containing protein 2; hSNU114; MFDM; Snrp116; Snu114; SNU114 homolog; U5 116KD; U5 small nuclear ribonucleoprotein component; U5 snRNP specific protein, 116 kD; U5 snRNP specific protein, 116 kDa; U5 snRNP-specific protein; U5-116 kDa; U5S1_HUMAN.
Research Area	Cell biology  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, )
Applications	WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	109kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human EFTUD2: 901-972/972
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	Spliceosomes are multi-protein complexes that are composed of snRNPs (small nuclear ribonucleoproteins) and a variety of associated protein factors, all of which work in concert to regulate the splicing of pre-mRNA. Snrp116, also known as EFTUD2 (elongation factor Tu GTP binding domain containing 2) or Snu114, is a 972 amino acid protein that localizes to the nucleus and belongs to the GTP-binding elongation factor family. Existing as a component of the multi-protein U5 snRNP spliceosome complex, Snrp116 plays an important role in pre-mRNA splicing, as well as in the recycling of spliceosomal snRNPs. The gene encoding Snrp116 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Function: Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP. Subunit: Identified in the spliceosome C complex. Interacts with ERBB4 and PRPF8. Subcellular Location: Nucleus. Post-translational modifications: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]. A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. Similarity: Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. SWISS: Q15029 Gene ID: 9343 Database links: Entrez Gene: 428281 Chicken Entrez Gene: 509425 Cow Entrez Gene: 9343 Human Entrez Gene: 20624 Mouse Entrez Gene: 287739 Rat Entrez Gene: 379223 Xenopus laevis Entrez Gene: 594937 Xenopus tropicalis Entrez Gene: 393480 Zebrafish Omim: 603892 Human SwissProt: Q5F3X4 Chicken SwissProt: A4FUD3 Cow SwissProt: Q15029 Human SwissProt: O08810 Mouse

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