SAB4503626
Anti-EFTUD2 antibody produced in rabbit
affinity isolated antibody
Synonym(s):
116 kDa, 116 kDa U5 small nuclear ribonucleoprotein component, KIAA0031, SNRP116, U5 snRNP- specific protein
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About This Item
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
ELISA, IHC, WB
Citations:
4
biological source
rabbit
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous solution
mol wt
antigen 109 kDa
species reactivity
human, mouse
concentration
~1 mg/mL
technique(s)
ELISA: 1:40000, immunohistochemistry: 1:50-1:100, western blot: 1:500-1:1000
NCBI accession no.
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... EFTUD2(9343)
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General description
Anti-EFTUD2 Antibody detects endogenous levels of total EFTUD2 protein.
EFTUD2 (Elongation factor Tu GTP binding domain containing 2) is a member of the U5 small nuclear ribonucleoprotein particle (snRNP) located on chromosome region 17q21.31. It encodes a small GTPase (116kDa) component of the major spliceosome. It consists of a GTP-binding domain and several other conserved domains homologous to the translational elongation factor EF-2. Its N-terminal domain has an acidic domain.
Immunogen
The antiserum was produced against synthesized peptide derived from human EFTUD2.
Immunogen Range: 321-370
Immunogen Range: 321-370
Application
Anti-EFTUD2 antibody produced in rabbit is suitable for immunohistochemistry and western blot.
Biochem/physiol Actions
EFTUD2 (Elongation factor Tu GTP binding domain containing 2) acts as a component of the spliceosome complex during translocation of mRNA on the ribosome. It produces mature mRNAs by binding to GTP during the processing of precursor mRNAs. Haploinsufficient genetic mutation in EFTUD2 causes a sporadic malformation syndrome, mandibulofacial dysostosis with microcephaly (MFDM), characterized with severe craniofacial abnormalities, microcephaly, growth delay, hearing loss, cleft palate, choanal atresia and dysmorphic features.
Features and Benefits
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Physical form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
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Storage Class
10 - Combustible liquids
wgk
nwg
flash_point_f
Not applicable
flash_point_c
Not applicable
Regulatory Information
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Margaret P Adam et al.
GeneReviews(?), 2014 Jul 03 (2014-07-08)
Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia; microcephaly (congenital or postnatal onset); malformations of the pinna, auditory canal, and/or middle ear (ossicles and semi-circular canals) with associated conductive hearing loss; and distinctive facial features (metopic
S K Gandomi et al.
Clinical genetics, 87(1), 80-84 (2013-11-26)
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35
T Achsel et al.
Molecular and cellular biology, 18(11), 6756-6766 (1998-10-17)
The human small nuclear ribonucleoprotein (snRNP) U5 is biochemically the most complex of the snRNP particles, containing not only the Sm core proteins but also 10 particle-specific proteins. Several of these proteins have sequence motifs which suggest that they participate
Daphné Lehalle et al.
Human mutation, 35(4), 478-485 (2014-01-29)
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart
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