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Myosin VIIA (MYO7A)

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DFNA11; DFNB2; MYU7A; NSRD2; USH1B; Usher Syndrome 1B(Autosomal Recessive,Severe)

Myosin VIIA (MYO7A)
CCC D442
HGNC 7606
MGI 104510
PubMed 18181211
RGD 628830
UniProt Q13402
Wiki MYO7A
Myosin VIIA is a member of the unconventional myosin superfamily of proteins. Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.
Myosin VIIA is an unconventional myosin with a very short tail. Unconventional myosins have diverse functions in eukaryotic cells and are primarily though 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD442Hu01 Recombinant Myosin VIIA (MYO7A) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Myosin VIIA (MYO7A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myosin VIIA (MYO7A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myosin VIIA (MYO7A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myosin VIIA (MYO7A) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myosin VIIA (MYO7A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myosin VIIA (MYO7A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myosin VIIA (MYO7A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myosin VIIA (MYO7A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myosin VIIA (MYO7A) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myosin VIIA (MYO7A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myosin VIIA (MYO7A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myosin VIIA (MYO7A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myosin VIIA (MYO7A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myosin VIIA (MYO7A) ELISA Kit Customized Service Offer
  1. "Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia."Proc. Natl. Acad. Sci. U.S.A. 93:3232-3237(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B."Genomics 36:440-448(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  4. "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types."Proc. Natl. Acad. Sci. U.S.A. 91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract]
  5. ErratumProc. Natl. Acad. Sci. U.S.A. 91:11767-11767(1994) [PubMed] [Europe PMC] [Abstract]
  6. "Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B."Proc. Natl. Acad. Sci. U.S.A. 92:9815-9819(1995) [PubMed] [Europe PMC] [Abstract]
  7. "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags." Proc. Natl. Acad. Sci. U.S.A. 97:3491-3496(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Defective myosin VIIA gene responsible for Usher syndrome type 1B."Nature 374:60-61(1995) [PubMed] [Europe PMC] [Abstract]
  9. "The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)."Genomics 40:73-79(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells."Hum. Mol. Genet. 5:1171-1178(1996) [PubMed] [Europe PMC] [Abstract]
  11. "MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes."EMBO Rep. 3:463-470(2002) [PubMed] [Europe PMC] [Abstract]
  12. "Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B."Invest. Ophthalmol. Vis. Sci. 51:1130-1135(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Functional characterization of the human myosin-7a motor domain."Cell. Mol. Life Sci. 69:299-311(2012) [PubMed] [Europe PMC] [Abstract]
  14. "The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65."Hum. Mol. Genet. 20:2560-2570(2011) [PubMed] [Europe PMC] [Abstract]
  15. "Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients."Am. J. Hum. Genet. 59:1074-1083(1996) [PubMed] [Europe PMC] [Abstract]
  17. "Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins."Am. J. Hum. Genet. 61:813-821(1997) [PubMed] [Europe PMC] [Abstract]
  18. "Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB."Hum. Mol. Genet. 6:111-116(1997) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in the myosin VIIA gene cause non-syndromic recessive deafness."Nat. Genet. 16:188-190(1997) [PubMed] [Europe PMC] [Abstract]
  20. "The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene."Nat. Genet. 16:191-193(1997) [PubMed] [Europe PMC] [Abstract]
  21. "Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene."Nat. Genet. 17:268-269(1997) [PubMed] [Europe PMC] [Abstract]
  22. "Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome."Am. J. Hum. Genet. 63:909-912(1998) [PubMed] [Europe PMC] [Abstract]
  23. "Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance."Am. J. Hum. Genet. 65:261-265(1999) [PubMed] [Europe PMC] [Abstract]
  24. "Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity."Hum. Mutat. 13:133-140(1999) [PubMed] [Europe PMC] [Abstract]
  25. "Identification of three novel mutations in the MYO7A gene."Hum. Mutat. 14:181-181(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I."Exp. Eye Res. 71:173-181(2000) [PubMed] [Europe PMC] [Abstract]
  27. "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively."Hum. Mutat. 20:76-77(2002) [PubMed] [Europe PMC] [Abstract]
  28. "Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."Hum. Genet. 115:149-156(2004) [PubMed] [Europe PMC] [Abstract]
  29. "Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)."Hum. Mutat. 24:274-275(2004) [PubMed] [Europe PMC] [Abstract]
  30. "Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation."J. Med. Genet. 41:E62-E62(2004) [PubMed] [Europe PMC] [Abstract]
  31. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."Hum. Genet. 116:292-299(2005) [PubMed] [Europe PMC] [Abstract]
  32. "Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%."J. Med. Genet. 43:763-768(2006) [PubMed] [Europe PMC] [Abstract]
  33. "Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis."Hum. Mutat. 32:1450-1459(2011) [PubMed] [Europe PMC] [Abstract]
  34. "Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1."Mol. Vis. 19:695-701(2013) [PubMed] [Europe PMC] [Abstract]
  35. "Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2."PLoS ONE 9:E97808-E97808(2014) [PubMed] [Europe PMC] [Abstract]