USH1G

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Usher syndrome 1G (autosomal recessive)
Identifiers
Symbol(s) USH1G; ANKS4A; FLJ33924; SANS
External IDs OMIM: 607696 MGI: 2450757 HomoloGene: 56113
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 124590 16470
Ensembl ENSG00000182040 ENSMUSG00000045288
Uniprot Q495M9 Q0VBT9
Refseq NM_173477 (mRNA)
NP_775748 (protein)		 NM_176847 (mRNA)
NP_789817 (protein)
Location Chr 17: 70.42 - 70.43 Mb Chr 11: 115.13 - 115.14 Mb
Pubmed search [1] [2]

Usher syndrome 1G (autosomal recessive), also known as USH1G, is a human gene.[1]

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).[1]

[edit] References

  1. ^ a b Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive).

[edit] Further reading

  • Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2004). "The molecular genetics of Usher syndrome.". Clin. Genet. 63 (6): 431–44. PMID 12786748. 
  • Ahmed ZM, Riazuddin S, Bernstein SL, et al. (2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.". Am. J. Hum. Genet. 69 (1): 25–34. PMID 11398101. 
  • Mustapha M, Chouery E, Torchard-Pagnez D, et al. (2002). "A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.". Hum. Genet. 110 (4): 348–50. doi:10.1007/s00439-002-0690-x. PMID 11941484. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Weil D, El-Amraoui A, Masmoudi S, et al. (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.". Hum. Mol. Genet. 12 (5): 463–71. PMID 12588794. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Ouyang XM, Yan D, Du LL, et al. (2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.". Hum. Genet. 116 (4): 292–9. doi:10.1007/s00439-004-1227-2. PMID 15660226. 
  • Kalay E, de Brouwer AP, Caylan R, et al. (2006). "A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.". J. Mol. Med. 83 (12): 1025–32. doi:10.1007/s00109-005-0719-4. PMID 16283141. 
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