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Usher Syndrome 1G (Autosomal Recessive) (USH1G) ELISA Kits

USH1G encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. Additionally we are shipping Usher Syndrome 1G (Autosomal Recessive) Antibodies (3) and Usher Syndrome 1G (Autosomal Recessive) Proteins (2) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human USH1G USH1G 124590 Q495M9
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More ELISA Kits for Usher Syndrome 1G (Autosomal Recessive) Interaction Partners

Human Usher Syndrome 1G (Autosomal Recessive) (USH1G) interaction partners

  1. 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).

  2. In USH1G patients, mutations in SANS eliminate Magi2 (show MAGI2 ELISA Kits) binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration.

  3. A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings.

  4. Pathogenic mutations in MYO7A (show MYO7A ELISA Kits), USH1C (show USH1C ELISA Kits), and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.

  5. A role of the SANS-myomegalin (show PDE4DIP ELISA Kits) complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells.

  6. crystal structure of MYO7A (show MYO7A ELISA Kits) 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 (show MYO7A ELISA Kits) MyTH4-FERM

  7. A frameshift mutation in SANS results in atypical Usher syndrome

  8. Mutations in harmonin (show USH1C ELISA Kits) and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins

  9. A novel D458V mutation in the USH1G PDZ (show INADL ELISA Kits) binding motif causes atypical Usher syndrome.

  10. USH1G has a minor involvement in Usher syndrome pathogenesis. Only eight different changes without a clear pathogenic effect have been detected.

Usher Syndrome 1G (Autosomal Recessive) (USH1G) Antigen Profile

Antigen Summary

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G).

Gene names and symbols associated with USH1G

  • Usher syndrome 1G (autosomal recessive) (USH1G) antibody
  • ANKS4A antibody
  • SANS antibody

Protein level used designations for USH1G

Usher syndrome type-1G protein , scaffold protein containing ankyrin repeats and SAM domain

GENE ID SPECIES
124590 Homo sapiens
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