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ELP4 encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. Additionally we are shipping Elongator Acetyltransferase Complex Subunit 4 Antibodies (24) and many more products for this protein.
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Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD (show ARSD Proteins) to language impairment and epilepsy.
Results show no difference in BDNF (show BDNF Proteins) and ELP4 genotype frequencies between benign epilepsy with centrotemporal spikes patients and controls; haplotype analysis also revealed no statistical difference
No association of SNPs in the ELP4 gene was detected in rolandic epilepsy patients.
Data suggest that a non-coding mutation in ELP4 impairs brain-specific (show CALY Proteins) Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders.
show that the Elongator (elo1, elo2, and elo3) complex was purified from plant cell cultures as a six-component complex.
Electron microscopy of an elo mutant showed a hypotonic vacuole, alterations in the size of grana and starch grains in the chloroplasts, and the massive presence of Golgi vesicles in the cytoplasm.
This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.
PAX6 neighbor gene protein
, elongator complex protein 4
, elongation protein 4 homolog