OTOG Gene - GeneCards | OTOG Protein | OTOG Antibody
Dec 25, 2024 · OTOG (Otogelin) is a Protein Coding gene. Diseases associated with OTOG include Deafness, Autosomal Recessive 18B and Rare Genetic Deafness. Among its related …
Targeted disruption of Otog results in deafness and severe …
Genes specifically expressed in the inner ear are candidates to underlie hereditary nonsyndromic deafness1. The gene Otog has been isolated from a mouse subtractive cDNA cochlear library2.
Clinical characteristics with long-term follow-up of four Okinawan ...
Aug 13, 2019 · OTOG (DFNB18B) is a causative gene of nonsyndromic mild-to-moderate hearing loss that follows an autosomal recessive inheritance pattern. Five causative variants in OTOG …
Prediction and interpretation of rare missense variant in OTOG ...
Jul 1, 2021 · Family-based whole-exome sequencing was carried out to address genetic causes. A rare homozygous missense variant, OTOG (c.C2383T:p.R795C) was detected. Protein …
Otogelin - Wikipedia
Otogelin is a protein that in humans is encoded by the OTOG gene. [5] The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the …
Novel OTOG Variants and Clinical Features of Hearing Loss in a …
Jan 7, 2025 · In this study, we aimed to clarify the detailed clinical characteristics of OTOG-associated HL through a large number of HL patients carrying OTOG variants. We also …
OTOG otogelin [Homo sapiens (human)] - Gene - NCBI
Title: A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction. Patients with OTOG mutation show a flat to downsloping configuration …
OTOG otogelin - NIH Genetic Testing Registry (GTR) - NCBI
Nov 23, 2023 · Clinical resource with information about OTOG, Autosomal recessive nonsyndromic hearing loss 18B, and available tests. There are links to practice guidelines and …
340990 - Gene ResultOTOG otogelin [ (human)] - National Center …
Feb 8, 2025 · A novel truncation mutation in OTOG gene is associated with prelingual mild hearing loss without vestibular dysfunction. Patients with OTOG mutation show a flat to …
OTOG人源基因|OTOG基因突变_致病性_靶点-RDDC官网
这个基因编码的蛋白质是内耳无细胞膜的成分。 破坏正交的鼠基因表明它在听觉和前庭功能中发挥作用。 它参与原纤维网络组织，将otoconial膜和cupulae锚定到神经上皮，并可能参与声音刺 …