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Browse our Usher Syndrome 1G (Autosomal Recessive) Proteins (USH1G)

Full name:
Usher Syndrome 1G (Autosomal Recessive) Proteins (USH1G)
On www.antibodies-online.com are 2 Usher Syndrome 1G (Autosomal Recessive) (USH1G) Proteins from 2 different suppliers available. Additionally we are shipping Usher Syndrome 1G (Autosomal Recessive) Antibodies (3) and many more products for this protein. A total of 6 Usher Syndrome 1G (Autosomal Recessive) products are currently listed.
Synonyms:
ANKS4A, SANS
list all proteins Gene Name GeneID UniProt
USH1G 124590 Q495M9

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Usher Syndrome 1G (Autosomal Recessive) Proteins (USH1G) by Origin

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More Proteins 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 Proteins) 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, USH1C (show USH1C Proteins), and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.

  5. A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells.

  6. 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

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

  8. Mutations in harmonin (show USH1C Proteins) 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 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) Protein Profile

Protein 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).

Alternative names and synonyms associated with Usher Syndrome 1G (Autosomal Recessive) (USH1G)

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

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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