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- Table of Contents
Facts about Usher syndrome type-1G protein homolog.
Required for normal hearing. .
Mouse | |
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Gene Name: | Ush1g |
Uniprot: | Q80T11 |
Entrez: | 16470 |
Belongs to: |
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No superfamily |
ANKS4A; FLJ33924; SANSSans; Scaffold protein containing ankyrin repeats and SAM domain; Usher syndrome 1G (autosomal recessive); Usher syndrome type-1G protein
Mass (kDA):
51.49 kDA
Mouse | |
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Location: | 11 E2|11 80.84 cM |
Sequence: | 11; |
Detected in stereocilia from cochlear hair cells (at protein level). Highly expressed in the cochlea, testis, cerebellum and eye, and low levels in brain, thymus and spleen. Significant signals detected in the neurosensory epithelium of inner ear cochlea and saccule, especially in inner and outer hair cells.
PMID: 12588793 by Kikkawa Y., et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.
PMID: 12588794 by Weil D., et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.