XB-FEAT-5813350

elp1

This is the community wiki page for the gene elp1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

05/08/2017 Human symbol has changed for genepage ID: 5813350 From ikbkap to elp1

Human symbol has changed for Entrez Gene: 8518. From IKBKAP to ELP1

Human name has changed for Entrez Gene: 8518. From inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein to elongator complex protein 1

summary

from ncbi:

in humans: The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]