2024年12月25日 · MYO7A (Myosin VIIA) is a Protein Coding gene. Diseases associated with MYO7A include Usher Syndrome, Type I and Deafness, Autosomal Recessive 2. Among its related pathways are Sensory processing of sound and PAK Pathway.

The MYO7A gene provides instructions for making a protein called myosin VIIA, which is part of a group of proteins called unconventional myosins. Learn about this gene and related health conditions.

The MYO7A gene encodes a protein classified as an unconventional myosin. Unconventional myosins are motor molecules with structurally conserved heads that move along actin filaments.

MYO7A is an unconventional myosin motor protein (3, 4), expressed both in retinal photoreceptors and the retinal pigmented epithelium (RPE) (5, 6). Studies of shaker1 mice have demonstrated that MYO7A has important functions in both cell types.

Mutations in MYO7A (myosin VIIa) cause Usher syndrome type 1B, a disorder involving profound congenital deafness and progressive blindness. In the retina, most MYO7A is localized in the apical region of the RPE (retinal pigmented epithelial) cells, and a …

2020年4月29日 · Mutations in myosin-VIIa (MYO7A) cause Usher syndrome type 1, characterized by combined deafness and blindness. MYO7A is proposed to function as a motor that tensions the hair cell mechanotransduction (MET) complex, but conclusive evidence is lacking.

2013年3月6日 · Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Represents an unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).

2025年1月4日 · Title: Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss. Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.

2024年3月5日 · New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family. Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.

The second MyTH4-FERM myosin critical in setting hair bundle architecture is MYO7A, which localizes along the stereocilia shaft and at sites where extracellular stereociliary links insert (Figure 1 f, Figure 3), such as the upper tip-link density (UTLD) and ankle links [49, 50].