ArticleAnnals of human genetics2000
2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4.
Article in Annals of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.Annals of neurology · 2026Article
- Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.Clinical genetics · 2023Article
- A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.BMC medical genetics · 2020Article
- Cytoglobin inhibits migration through PI3K/AKT/mTOR pathway in fibroblast cells.Molecular and cellular biochemistry · 2018Article
- Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.American journal of human genetics · 2014Article
- Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.Cell · 2013Article
- Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4.Journal of genetics and genomics = Yi chuan xue bao · 2012Article
- New structural and functional contexts of the Dx[DN]xDG linear motif: insights into evolution of calcium-binding proteins.PloS one · 2011Article
- Cochlin in the eye: functional implications.Progress in retinal and eye research · 2007Review
- Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome.PLoS computational biology · 2006Article
- Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.Journal of molecular medicine (Berlin, Germany) · 2004Article
- Actin dynamics in platelets.International review of cytology · 2002Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Stereocilia of the inner ear play an integral role in the mechanotransduction of sound. Their structural support is derived from actin filaments and actin-binding proteins. We have identified a novel actin-binding protein, 2E4-kaptin (KPTN), which appears to be involved in this structural network. Using double label immunofluorescence, we now show that KPTN extends beyond the barbed ends of actin filaments at the tips of stereocilia, and using cloned human cDNA, we mapped KPTN to chromosome 19q13.4. A combination of FISH, radiation hybrid mapping and YAC screening localized KPTN between markers D19S412 and NIB1805, making this gene an excellent functional and positional candidate for DFNA4, a form of autosomal dominant non-syndromic hearing loss. We identified a second family with inherited deafness that also maps to the DFNA4 region. To screen KPTN for deafness-causing mutations, we first determined its genomic structure and then completed a mutational analysis by direct sequencing and SSCP in affected family members. Although no deafness-causing mutations were identified in the coding region, KPTN remains an excellent candidate gene for hearing loss; by synteny, its murine orthologue also remains a candidate gene for the Nijmegan waltzer (nv) mouse mutant, which has vestibular defects and a variable sensorineural hearing loss.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.