Ask about this productRelated genes to: MYO7A antibody
- Gene:
- MYO7A NIH gene
- Name:
- myosin VIIA
- Previous symbol:
- USH1B, DFNB2, DFNA11
- Synonyms:
- NSRD2
- Chromosome:
- 11q13.5
- Locus Type:
- gene with protein product
- Date approved:
- 1992-06-08
- Date modifiied:
- 2015-07-01
Related products to: MYO7A antibody
Related articles to: MYO7A antibody
- Meniere's disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes remain to be established in non-Finnish European populations. - Source: PubMed
Publication date: 2026/04/22
Pham Mai TCruz-Granados PabloNadar-Ponniah Prathamesh TChua Han ChowJang Seung HyunGee Heon YungJung JinseiChoi Jae YoungKim Sung HuhnLopez-Escamez Jose A - MYO7A is involved in several forms of deafness in humans and mice, and in this study we aimed to investigate if the hearing loss could be reversed after its onset. - Source: PubMed
Publication date: 2026/04/20
Pentland Daniel RBlackburn JackWitting LaurenKirwin Darcey ASteel Karen P - , a gene mutated in Usher syndrome and nonsyndromic deafness, encodes an unconventional myosin essential for hair cell function. Our previous work revealed that cochlear hair cells express distinct isoforms with unique spatial and cell type-specific patterns. The canonical isoform () and an additional isoform () are co-expressed in outer hair cells (OHCs) but exhibit opposing tonotopic gradients, while inner hair cells primarily express . These isoforms arise from distinct transcriptional start sites, indicating separate regulatory inputs. Here, we identify an intronic regulatory element, , essential for tonotopically graded expression. deletion reduces MYO7A protein levels in a tonotopically varied manner, disrupts hair bundle morphogenesis, alters OHC mechanotransduction, and leads to hair cell degeneration and hearing loss. We further identify SIX2, a tonotopically expressed transcription factor that may interact with to regulate in OHCs. These findings define a regulatory axis critical for isoform-specific expression and cochlear function. - Source: PubMed
Publication date: 2026/04/07
Li SihanJun SujinKim Ye-RiGogineni AyathiLee FranklinKim Chul HoonKim Un-KyungPeng Anthony WShin Jung-Bum - is known to be the genetic cause of Usher syndrome type 1, as well as autosomal dominant and autosomal recessive non-syndromic hearing loss. In general, autosomal dominant -associated hearing loss shows progressive high-frequency, sloping hearing loss. However, several variants are associated with low-frequency hearing loss. -associated low-frequency hearing loss is relatively rare, and the clinical details remain unclear. - Source: PubMed
Publication date: 2026/03/11
Koizumi HiromiNishio Shin-YaUsami Shin-Ichi - Nonsyndromic hearing loss (NSHL) is a highly prevalent, genetically heterogeneous condition, yet its molecular basis in the Singaporean population remains underexplored. We performed whole-exome sequencing and integrative bioinformatics analysis in 115 patients with NSHL to define population-specific genetic biomarkers. A molecular diagnosis was achieved in 57% of cases, with 76% of identified variants classified as pathogenic or likely pathogenic and 24% exhibiting high pathogenic potential. Common East Asian NSHL genes, including , , and , were frequently detected alongside less prevalent genes such as , , , , , , , , , , , , , , , highlighting extensive genetic heterogeneity. Notably, multiple novel variants, including c.554-2A>G, and TNC p.N750Y, were identified, expanding the known mutational spectrum of . Genotype-phenotype correlations revealed that variants were primarily associated with mild to moderate hearing loss, whereas variants correlated with severe to profound phenotypes in the Singaporean populations. Collectively, our study provides important insights into the genetic architecture of NSHL in Singapore's population. In addition, it supports improved molecular diagnosis yield and informed clinical management decisions as well as the advancement of precision medicine approaches aimed at reducing the burden of hearing loss in the region. - Source: PubMed
Publication date: 2026/02/26
Lim Che KangCheng Mei ShuangLow GerardTang Joyce Zhi'enNg Jia HuiOng Ni GinLeem Pei ShanLim Su AnnThong Jiun FongTan Vanessa Yee Jueen