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EFTUD2 encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Additionally we are shipping Elongation Factor Tu GTP Binding Domain Containing 2 Antibodies (64) and Elongation Factor Tu GTP Binding Domain Containing 2 Proteins (4) and many more products for this protein.
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study has established that eftud2 functions in RNA splicing during neural development
we report two individuals of Asian ancestry with Mandibulofacial dysostosis type Guion-Almeida (MFDGA), each harboring a novel, pathogenic splice site variant in EFTUD2
We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.
An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review)
Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome.
Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells.
These data demonstrate that EFTUD2 restricts Hepatitis C Virus infection mainly through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway, thereby revealing the participation of EFTUD2 as a novel innate immune regulator.
A de nove deletion mutation at 17q21.31, encompassing the EFTUD2 gene, is associated with congenital mandibulofacial dysostosis with microcephaly.
Three different mutations in EFTUD2 gene were found in patients with mandibulofacial dysostosis type Guion-Almeida syndrome
Study describes loss-of-function mutations in EFTUD2 gene in patients with different clinical manifestations of Mandibulofacial dysostosis, Guion-Almeida type syndrome.
the phenotype in patients with EFTUD2 mutations is much broader than previously anticipated; in addition to AFD type Guion-Almeida and syndromic esophageal atresia, oto-facial syndrome also belongs to the EFTUD2 mutation spectrum
Novel mutations in EFTUD2 were discovered in 3 patients. These mutations expand the clinical features in patients with EFTUD2 mutations and demonstrate an overlap with oculo-auriculo-vertebral spectrum.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested.
Eftud2 regulates alternative splicing of MyD88 to control the innate immune response in macrophages
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.
116 kDa U5 small nuclear ribonucleoprotein component
, U5 snRNP-specific protein, 116 kD
, elongation factor Tu GTP binding domain containing 2
, 116 kDa U5 small nuclear ribonucleoprotein component-like
, U5-116 kDa
, U5 snRNP-specific protein, 116 kDa
, elongation factor Tu GTP-binding domain protein 2
, SNU114 homolog
, elongation factor Tu GTP-binding domain-containing protein 2
, U5 small nuclear ribonucleoprotein 116 kDa