LOXHD1 Antibody, HRP conjugated

1. We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77. PMID: 26973026
2. Mutations in LOXHD1 are identified in a Japanese population with sensorineural hearing loss. PMID: 25792669
3. Authors identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes. PMID: 22341973
4. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community PMID: 21465660
5. A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews PMID: 21465660
6. A mutation in LOXHD1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was identified. PMID: 19732867

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HGNC: 26521

OMIM: 613072

KEGG: hsa:125336

STRING: 9606.ENSP00000300591

UniGene: Hs.345877