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ILDR1 encodes a protein that contains an immunoglobulin-like domain.
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this is the first ILDR1 and MYO6 (show MYO6 Proteins) mutations recognized in the southwest Iran. Our data expands the spectrum of mutations in ILDR1 and MYO6 (show MYO6 Proteins) genes.
The present study reports a first ILDR1 gene mutation in a consanguineous family with hearing loss in the UAE, and confirms that the whole-exome sequencing approach is a robust tool for the diagnosis of monogenic diseases with high levels of allelic and locus heterogeneity.
We discovered two genome-wide significant SNPs. The first was novel and near ISG20 (show ISG20 Proteins). The second was in TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. Motivated by our TRIOBP results, we also looked at exons in known hearing loss genes, and identified two additional SNPs, rs2877561 in ILDR1 and rs9493672 in EYA4 (show EYA4 Proteins) (at a significance threshold adjusted for number of SNPs in those regions).
consanguineous deaf families with novelmutations in the ILDR1 gene, were identified.
Whole-exome sequencing of a Korean multiplex family segregating partial deafness identified a novel homozygous ILDR1 variant (p.P69H) within the Ig-like domain.
Data indicate a mutation in immunoglobulin-like domain containing receptor 1 (ILDR1) as a causative gene for autosomal-recessive non-syndromic hearing loss (arNSHL) in a consanguineous Saudi family with three affected children.
The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin (show MARVELD2 Proteins) to TCs is required for hearing.
The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
In cultured renal epithelial cells normally lacking the expression of Ildr1, overexpression of Ildr1 significantly reduces the paracellular water permeability. Together, study provides a mechanism of how cells transport water.
The angulin-2/ILDR1 deficiency causes the postnatal degenerative loss of hair cells in the cochlea.
Study consolidate the importance of ILDR1 as a tight junction protein (show OCLN Proteins) necessary for cochlear hair cells survival, and the integrity of the auditory system.
ILDR1 regulates CCK (show CCK Proteins) release through a mechanism dependent on fatty acids and lipoproteins.
This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene.
immunoglobulin-like domain-containing receptor 1
, immunoglobulin-like domain-containing receptor 1 alpha
, immunoglobulin-like domain-containing receptor 1 beta