Gene Symbol: lhfpl5a
Description: LHFPL tetraspan subfamily member 5a
Alias: asn, astronaut, tetraspan membrane protein of hair cell stereocilia homolog, lipoma HMGIC fusion partner-like 5a
Nicolson T, Rusch A, Friedrich R, Granato M, Ruppersberg J, Nusslein Volhard C. Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants. Neuron. 1998;20:271-83 pubmed
..Mutations in sputnik and mariner affect hair bundle integrity. Mutant astronaut and cosmonaut hair cells have relatively normal microphonics and thus appear to affect events downstream of ..
Maeda R, Pacentine I, Erickson T, Nicolson T. Functional Analysis of the Transmembrane and Cytoplasmic Domains of Pcdh15a in Zebrafish Hair Cells. J Neurosci. 2017;37:3231-3245 pubmed publisher
..In contrast, Pcdh15a lacking the entire cytoplasmic domain is not functional. These results demonstrate that the CR plays a key role in the mechanotransduction complex in hair cells. ..
Erickson T, Morgan C, Olt J, Hardy K, Busch Nentwich E, Maeda R, et al
. Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt). elife. 2017;6: pubmed publisher
..Thus, we propose a model of MET complex assembly where Tomt and the Tmcs interact within the secretory pathway to traffic Tmc proteins to the hair bundle. ..
B hne A, Darras A, D Cotta H, Baroiller J, Galiana Arnoux D, Volff J. The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene. BMC Genomics. 2010;11:721 pubmed publisher
..Comparative expression analysis strongly suggests that the ancestral E3 ubiquitin ligase function of the single copy mkrn gene before duplication in vertebrates was gonad-specific, with maternal expression in early embryos...
Obholzer N, Swinburne I, Schwab E, Nechiporuk A, Nicolson T, Megason S. Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing. Development. 2012;139:4280-90 pubmed publisher
..validated that the disruption of cdh23 abolishes the ear's sensory functions and identified a candidate lesion in lhfpl5a predicted to cause nonsyndromic deafness...