EFTUD2 Antibody (PACO43174)
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주문- SKU:
- PACO43174
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | EFTUD2 Antibody (PACO43174) |
Antibody SKU: | PACO43174 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | ELISA:1:2000-1:10000, WB:1:500-1:5000 |
Species Reactivity: | Human |
Immunogen: | Recombinant Human 116 kDa U5 small nuclear ribonucleoprotein component protein (1-205AA) |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Purification Method: | Antigen Affinity Purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Western blot. All lanes: 116 kDa. U5 small nuclear ribonucleoprotein component antibody at 3µg/ml. Lane 1: Hela whole cell lysate. Lane 2: 293T whole cell lysate. Lane 3: NIH/3T3 whole cell lysate. Secondary. Goat polyclonal to rabbit IgG at 1/10000 dilution. Predicted band size: 47, 44, 37 kDa. Observed band size: 109 kDa. |
Background: | Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP. |
Synonyms: | 116 kDa U5 small nuclear ribonucleoprotein component (Elongation factor Tu GTP-binding domain-containing protein 2) (SNU114 homolog) (hSNU114) (U5 snRNP-specific protein, 116 kDa) (U5-116 kDa), EFTUD2, KIAA0031 SNRP116 |
UniProt Protein Function: | EFTUD2: Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP. Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM). 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. Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:RNA-binding; Spliceosome; RNA splicing Chromosomal Location of Human Ortholog: 17q21.31 Cellular Component: nucleoplasm; spliceosome; Cajal body; membrane; cytoplasm; nuclear speck Molecular Function:GTPase activity; protein binding; GTP binding Biological Process: nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; mRNA processing Disease: Mandibulofacial Dysostosis, Guion-almeida Type |
NCBI Summary: | This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] |
UniProt Code: | Q15029 |
NCBI GenInfo Identifier: | 18202501 |
NCBI Gene ID: | 9343 |
NCBI Accession: | Q15029.1 |
UniProt Secondary Accession: | Q15029,Q9BUR0, B4DK30, B4DMC0, D3DX58, K7EJ81, |
UniProt Related Accession: | Q15029 |
Molecular Weight: | 972 |
NCBI Full Name: | 116 kDa U5 small nuclear ribonucleoprotein component |
NCBI Synonym Full Names: | elongation factor Tu GTP binding domain containing 2 |
NCBI Official Symbol: | EFTUD2 |
NCBI Official Synonym Symbols: | MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD |
NCBI Protein Information: | 116 kDa U5 small nuclear ribonucleoprotein component; hSNU114; SNU114 homolog; U5 snRNP-specific protein, 116 kDa; elongation factor Tu GTP-binding domain-containing protein 2 |
UniProt Protein Name: | 116 kDa U5 small nuclear ribonucleoprotein component |
UniProt Synonym Protein Names: | Elongation factor Tu GTP-binding domain-containing protein 2; SNU114 homolog; hSNU114; U5 snRNP-specific protein, 116 kDa; U5-116 kDa |
Protein Family: | 110 kDa U5 small nuclear ribonucleoprotein |
UniProt Gene Name: | EFTUD2 |
UniProt Entry Name: | U5S1_HUMAN |