Familial dysautonomia is caused by mutations of the IKAP gene.

doi:10.1086/318808

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Familial dysautonomia is caused by mutations of the IKAP gene.

American journal of human genetics - 1 Mar 2001

Anderson S L, Coli R, Daly I W, Kichula E A, Rork M J, Volpi S A, Ekstein J, Rubin B Y

Abstract excerpt

The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA encoding the IkappaB kinase complex-associated protein (IKAP) lacks...

Topics

Amino Acid Sequence
Base Sequence
Carrier Proteins
Chromosome Mapping
Chromosomes, Human, Pair 9
Consensus Sequence
Dysautonomia, Familial
Exons
Female
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Reverse Transcriptase Polymerase Chain Reaction

Sequence Deletion

Transcriptional Elongation Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 11179021
DOI: 10.1086/318808
PMCID: PMC1274486

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial dysautonomia is caused by mutations of the IKAP gene.PMID 11179021Read ↗

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.Semantic proximity Read ↗

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.Semantic proximity Read ↗

IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.Semantic proximity Read ↗

Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.Semantic proximity Read ↗

Familial dysautonomia: History, genotype, phenotype and translational research.Semantic proximity Read ↗

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.Semantic proximity Read ↗

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.Semantic proximity Read ↗

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.Semantic proximity Read ↗

Comprehensive in silico Analysis of <i>IKBKAP</i> gene that could potentially cause Familial dysautonomiaSemantic proximity Read ↗

RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.Semantic proximity Read ↗

The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.Semantic proximity Read ↗

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.