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.

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

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.

肌球蛋白是一种机械化学蛋白质，其特征在于存在一个运动结构域、一个肌动蛋白结合结构域、一个与其他蛋白质相互作用的颈部结构域，以及一个作为锚点的尾结构域。 该基因编码一种具有非常短尾巴的非常规肌球蛋白。 该基因的缺陷与小鼠 shaker-1 表型和人类 Usher 综合征 1B 相关，后者的特征是耳聋、前庭功能下降和 (人类) 视网膜变性。 可变剪接导致多个转录本变体。 [RefSeq 提供，2008 年 7 月] This gene is a member of the Myosin gene family.

2022年3月9日 · MYO7A 基因变异所致耳聋表型具有高度的异质性，既可导致超过50%的1型Usher综合征型耳聋 [4]，也可导致常染色体显性遗传性耳聋11型 (deafness，autosomal dominant 11，DFNA11) [5] 和常染色体隐性遗传性耳聋2型 (deafness，autosomal recessive 2，DFNB2) [6]。

Myosin VIIa (MYO7A) is an unconventional myosin that is required for normal hearing and vision; mutations in the MYO7A gene result in Usher syndrome type 1B [1], which is characterized by congenital profound hearing loss and progressive retinal degeneration [2].

2025年1月4日 · Gene target information for MYO7A - myosin VIIA (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

HGNC Approved Gene Symbol: MYO7A. Cytogenetic location: 11q13.5 Genomic coordinates (GRCh38) : 11:77,128,246-77,215,241 (from NCBI) 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 proposed to traffic extracellular stereocilia links and mechanically bridge between these and the stereocilia actin cytoskeleton using an array of molecular adapters. At the UTLD, MYO7A colocalizes with the tip-link component cadherin 23 (CDH23) as part of a complex with Harmonin (USH1C) and Sans (USH1G) [50, 55–57].

Defective myosin VIIA gene responsible for Usher syndrome type 1B. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.