ELP1 Antibody, HRP conjugated

1. Studies have demonstrated that overexpression of miR-203a-3p results in a decrease in NOVA1 protein levels, while concurrently leading to an increase in IKAP levels. This finding suggests a potential interaction between NOVA1 and IKAP. PMID: 27483351
2. IKAP has been proposed as a vesicular-like protein potentially involved in neuronal transport within human embryonic stem cell-derived peripheral nervous system neurons. PMID: 26437462
3. The formation of the Elp1 dimer is crucial for its stability both in vitro and in vivo, and is essential for the assembly of human Elongator complexes. PMID: 26261306
4. IKBKAP mRNA levels have been observed to decrease during familial dysautonomia crises, returning to baseline after recovery. However, the cause-and-effect relationship between these changes remains unclear. PMID: 24268683
5. In a humanized knock-in IKBKAP mouse model for Familial dysautonomia, phosphatidylserine has been shown to increase IKBKAP levels. PMID: 23515154
6. Digoxin has been demonstrated to repress SRSF3 expression, playing a role in the inclusion of exon 20 within the IKBKAP transcript generated from the familial dysautonomia mutant allele. PMID: 23711097
7. Combined treatment with epigallocatechin gallate and genistein has been shown to synergistically upregulate both wild-type IKBKAP-encoded RNA and protein levels in familial dysautonomia-derived cells. PMID: 22495984
8. IKAP is known to play pleiotropic roles in both the peripheral and central nervous systems. PMID: 22384137
9. IKAP/hELP1 deficiency has been observed to influence gene expression in differentiating neuroblastoma cells, potentially impacting familial dysautonomia. PMID: 21559466
10. IKK complex-associated protein deficiency has been linked to the upregulation of SCG10, a microtubule-destabilizing protein, and concurrently disrupts the cytoskeleton. PMID: 21273291
11. Phosphatidylserine has been shown to increase IKBKAP levels in familial dysautonomia cells. PMID: 21209961
12. IKAP regulates contactin levels, which are essential for appropriate cell-cell adhesion and may modulate neuronal growth during development. PMID: 20671422
13. IKAP is critical for the development of afferent baroreflex pathways, highlighting its potential therapeutic implications in managing these patients. PMID: 21098405
14. IKBKAP has been identified as a candidate gene for Hirschsprung's disease and has been mapped to the chromosome 9q31 locus. PMID: 20361209
15. Research has revealed a novel role for IKBKAP in regulating the activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway. PMID: 12058026
16. A review on the genetics of familial dysautonomia highlights the tissue-specific expression of a splicing mutation associated with this condition. PMID: 12102458
17. Tissue-specific reduction in splicing efficiency of IKBKAP is attributed to the major mutation associated with familial dysautonomia. PMID: 12577200
18. Studies suggest that polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population. PMID: 12774215
19. While IKBKAP (Elongator) is recruited to both target and non-target genes, only target genes exhibit histone H3 hypoacetylation and progressively lower RNAPII density through the coding region in familial dysautonomia cells. PMID: 16713582
20. Familial dysautonomia (FD) is a neurodevelopmental disorder caused by a single-base change in the 5' splice site (5'ss) of intron 20 within the IKBKAP gene (c.2204+6T>C). PMID: 16964593
21. Research has investigated the nature of the FD splicing defect and the mechanism by which kinetin enhances exon inclusion. PMID: 17206408
22. IKAP/hELP1 may play a significant role in oligodendrocyte differentiation and/or myelin formation. PMID: 17591626
23. A humanized IKBKAP transgenic mouse model has been described, mimicking a tissue-specific human splicing defect. PMID: 17644305
24. IKBKAP is suspected to play a role in familial dysautonomia. PMID: 18091349
25. Evidence supports the role of IKAP's cytosolic interactions in cell adhesion and migration, suggesting that deficiencies in cell motility could contribute to familial dysautonomia. PMID: 18303054
26. IKAP is crucial for both vascular and neural development during embryogenesis, and its protein function is conserved between mouse and human. PMID: 19015235

Show More

Hide All

HGNC: 5959

OMIM: 223900

KEGG: hsa:8518

STRING: 9606.ENSP00000363779

UniGene: Hs.494738