MYO7A

MYO7A
Myosin VIIA
Identifiers
Symbols MYO7A; DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B
External IDs OMIM276903 MGI104510 HomoloGene219 GeneCards: MYO7A Gene
Orthologs
Species Human Mouse
Entrez 4647 17921
Ensembl ENSG00000137474 ENSMUSG00000030761
UniProt Q13402 P97479
RefSeq (mRNA) NM_000260.3 NM_008663.2
RefSeq (protein) NP_000251.3 NP_032689.2
Location (UCSC) Chr 11:
76.84 – 76.93 Mb
Chr 7:
105.2 – 105.27 Mb
PubMed search [1] [2]

Myosin VIIA is protein that in humans is encoded by the MYO7A gene.[1] Myosin VIIA is a member of the unconventional myosin superfamily of proteins.[2] Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.

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. Myosin VIIA is an unconventional myosin with a very short tail. Unconventional myosins have diverse functions in eukaryotic cells and are primarily thought to be involved in the movement or linkage of intra-cellular membranes and organelles to the actin cytoskeleton via interactions mediated by their highly divergent tail domains.

MYO7A is expressed in a number of mammalian tissues, including testis, kidney, lung, inner ear, retina and the ciliated epithelium of the nasal mucosa.

Contents

Clinical significance

Mutations in the MYO7A gene cause the Usher syndrome type 1B, a combined deafness/blindness disorder.[2]

References

  1. ^ Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA (September 1996). "Mapping of unconventional myosins in mouse and human". Genomics 36 (3): 431–9. doi:10.1006/geno.1996.0488. PMID 8884266. 
  2. ^ a b Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD (March 1995). "Defective myosin VIIA gene responsible for Usher syndrome type 1B". Nature 374 (6517): 60–1. doi:10.1038/374060a0. PMID 7870171. 

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