USH1G Antibody, HRP conjugated

1. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. PMID: 28137943
2. USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). PMID: 25255398
3. In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. PMID: 24608321
4. A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings. PMID: 22876113
5. Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. PMID: 22219650
6. A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells. PMID: 21767579
7. crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM PMID: 21311020
8. A frameshift mutation in SANS results in atypical Usher syndrome PMID: 21044053
9. Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins PMID: 20142502
10. A novel D458V mutation in the USH1G PDZ binding motif causes atypical Usher syndrome. PMID: 16283141
11. USH1G has a minor involvement in Usher syndrome pathogenesis. Only eight different changes without a clear pathogenic effect have been detected. PMID: 17896313

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HGNC: 16356

OMIM: 276900

KEGG: hsa:124590

STRING: 9606.ENSP00000320076

UniGene: Hs.376688