Recombinant Human Unconventional myosin-Ia (MYO1A), partial

1. These data do not support a causal relationship of variants in MYO1A to sensorineural hearing loss. We suggest that the genotypic ascertainment method is useful to objectively evaluate gene-phenotype associations. PMID: 27759032
2. This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans. PMID: 26517670
3. One missense variant, p.R544W, was found in the MYO1A gene, and in silico analysis suggested that this variant has deleterious effects on protein function. PMID: 25080041
4. Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model PMID: 24616153
5. findings suggest that MYO1A has tumor suppressor activity in the normal gastric epithelium but not in the normal endometrium and inactivation of MYO1A either genetically or epigenetically may confer gastric epithelial cells a growth ad PMID: 23002058
6. Myo1a targeting to microvilli is driven by membrane binding potential that is distributed throughout TH1 rather than localized to a single motif. PMID: 22367206
7. results identify MYO1A as a unique tumor-suppressor gene in colorectal cancer and demonstrate that the loss of structural brush border proteins involved in cell polarity are important for tumor development PMID: 22307608
8. MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells PMID: 11916846
9. mapping of a novel autosomal dominant non-syndromic deafness locus, DFNA48, to chromosome 12q13-q14 in an Italian family PMID: 12596055
10. Multiple mutations of MYO1A, a cochlear-expressed gene, were studied in sensorineural hearing loss. PMID: 12736868
11. This movement is based on an active and directed process that is facilitated by an acto-NMI complex, establishing for the first time a functional role for a motor complex consisting of actin and a myosin in the nucleus. PMID: 16936815
12. These data are the first to suggest that mechanical activity is essential for proper localization of Myo1a in microvilli. PMID: 17981900
13. Sensing molecular tension is crucial for a wide array of cellular processes. Myosin I dramatically alters its motile properties in response to tension. PMID: 18599791

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HGNC: 7595

OMIM: 601478

KEGG: hsa:4640

STRING: 9606.ENSP00000300119

UniGene: Hs.5394