SAB4503626
Anti-EFTUD2 antibody produced in rabbit
affinity isolated antibody
别名:
116 kDa, 116 kDa U5 small nuclear ribonucleoprotein component, KIAA0031, SNRP116, U5 snRNP- specific protein
生物来源
rabbit
偶联物
unconjugated
抗体形式
affinity isolated antibody
抗体产品类型
primary antibodies
克隆
polyclonal
表单
buffered aqueous solution
分子量
antigen 109 kDa
种属反应性
human, mouse
浓度
~1 mg/mL
技术
ELISA: 1:40000
immunohistochemistry: 1:50-1:100
western blot: 1:500-1:1000
NCBI登记号
UniProt登记号
运输
wet ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... EFTUD2(9343)
一般描述
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.
免疫原
The antiserum was produced against synthesized peptide derived from human EFTUD2.
Immunogen Range: 321-370
Immunogen Range: 321-370
应用
Anti-EFTUD2 antibody produced in rabbit is suitable for immunohistochemistry and western blot.
生化/生理作用
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.
特点和优势
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外形
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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储存分类代码
10 - Combustible liquids
WGK
nwg
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
常规特殊物品
此项目有
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
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
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
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