Myosin VIIA is an unconventional myosin with the longest tail (1360 aa). The tail is expected to dimerize, resulting in a two-headed molecule.

Dec 25, 2024 · 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.

Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional Myosin with a very short tail.

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.

A new pathogenic compound heterozygous mutation in the MYO7A gene has been discovered, which provides more diagnostic evidence for the autosomal recessive non-syndromic deafness caused by the MYO7A gene mutation and improves the prenatal gene diagnosis in high-risk families for mutation carriers to reduce congenital disabilities.

Apr 29, 2020 · 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...

Mar 9, 2022 · myo7a具有高度的遗传异质性和基因多效性。myo7a基因突变既可导致非综合征型耳聋(dfna11和dfnb2)，也可引起同时伴有内耳和视网膜病变的综合征型耳聋

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. Their highly divergent tails are presumed to be tethered to different macromolecular structures that move relative to actin filaments, thus enabling them to ...

Jan 4, 2025 · 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.

用于研究Usher综合症1型和常染色体隐性非综合征性耳聋2型。 这个基因的人类同源物涉及Leber先天性夜盲；Usher综合症（多种）；听觉系统疾病（多种）；和先天性眼球震颤。 与人类MYO7A（肌球蛋白VIIA）正交。 [由基因组资源联盟，2022年4月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.