MYO7A

Notation for the gene for unconventional myosin 7A.

Farlex Partner Medical Dictionary © Farlex 2012

MYO7A

A gene on chromosome 11q13.5 that encodes a protein belonging to the myosin gene superfamily of motor proteins, which is highly expressed in the retina and cochlea. It is thought to bind to membranes that are moved relative to actin filaments. MYO7A is thought to play a role in trafficking of ribbon-synaptic vesicle complexes and renewing outer photoreceptors disks; in the inner ear, it is thought to maintain the rigidity of stereocilia during the dynamic movements of the bundle.

Molecular pathology
MYO7A’s involvement in hair-cell vesicle trafficking of aminoglycosides may explain the pathogenesis of the ototoxicity seen with aminoglycosides.

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References in periodicals archive

KEYWORDS: Deafness, EVC2, MYO7A, Next Generation Sequencing, TH.

Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness

Similarly, an EIAV vector, carrying the MYO7A gene (6.5 kb), was tested for its efficiency in the treatment of RP associated with Usher syndrome 1B [47].

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy

Nonviral vectors developed through studies on vector capacity have increased the number of target genes, and genes such as CEP290 in LCA, ABCA4 in SMD, and MYO7A in Type 1 Usher syndrome are currently within capacity Nevertheless, larger genes such as USH2A still exceed the available capacity.

Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies

Screening for the SLC26A4 (NM_000441.1), MYO7A (NM_000260.3), MYO15A (NM_016239.3), OTOF (NM_194248.2), CDH23 (NM_022124.5), TMIE (NM_147196.2), TECTA (NM_005422.2), PCDH15 (NM_033056.3), TMC1 (NM_138691.2), TMPRSS3 (NM_024022.2), LHFPL5 (NM_182548.3) genes was performed using the open array method (TaqManR OpenArrayR) in 12 families in whom m.

Research of genetic bases of hereditary non-syndromic hearing loss

Samples With Previously Identified Heterozygous Variants That Were Used for Validation of the Combined Disease Panels Gene Transcript Variant Type CDKL5 NM_001037343.1 c.2384A>C, SNV p.Asn795Thr CDKL5 NM_001037343.1 c.380A>G, SNV p.His127Arg FGFR1 NM_023110.2 c.755C>G, SNV p.Pro252Arg FGFR2 NM_000141.4 c.1018T>C, SNV p.Tyr340His FGFR3 NM_001163213.1 c.749C>G, SNV p.Pro250Arg FLCN NM_144997.5 c.1285delC, Indel p.His429ThrfsX39 FLCN NM_144997.5 c.1285dupC, Indel p.His429ProfsX27 GJB2 NM_004004.5 c.35delG, Indel p.Gly12ValfsX2 MAP2K1 NM_002755.3 c.388T>C, SNV p.Tyr130His MYO7A NM_000260.3 c.3719G>A, SNV p.

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases

It isaA caused by abnormalities in a gene calledaA Myosin VIIAaA (MYO7A).aA UshStataA is designed toaA deliver a corrected version of theaA MYO7AaA gene into the cells of the retinaaA usingaA the company's LentiVectoraA gene deliveryaA technology.aA

EMA grants orphan designation to Oxford BioMedica's UshStat

To determine the expression pattern of Prox1 during the hair cell differentiation of the inner ear, we colabeled embryonic sections using antibodies against Prox1 and Myo7a or Prox1 and Sox2.

The Key Transcription Factor Expression in the Developing Vestibular and Auditory Sensory Organs: A Comprehensive Comparison of Spatial and Temporal Patterns

At present, ten genes have been associated with USH, including MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN-1 [3-15].

Identification of Binding Partners of Deafness-Related Protein PDZD7

Steel, "Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation," Journal of the Association for Research in Otolaryngology, vol.

Inner Ear Hair Cell Protection in Mammals against the Noise-Induced Cochlear Damage