Gene: ELP1

Alternate names for this Gene: DYS|FD|IKAP|IKBKAP|IKI3|TOT1

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.3

Description of this Gene: elongator acetyltransferase complex subunit 1

Type of Gene: protein-coding

rs1341215 in ELP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs111033171 in ELP1 gene and Dysautonomia, Familial PMID 11179021 2001 Familial dysautonomia is caused by mutations of the IKAP gene.

PMID 16964593 2007 Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

PMID 9536098 1998 Statistical features of human exons and their flanking regions.

PMID 11179008 2001 Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

PMID 23515154 2013 Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.

PMID 12116234 2002 Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

PMID 22190446 2012 Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.

PMID 27065010 2016 Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

PMID 12116234 2002 Two IKBKAP mutations, IVS20(+6T --> C) and R696P, have been identified in FD patients of AJ descent.

rs16913693 in ELP1 gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs16913693 in ELP1 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.