USH1G

Usher syndrome 1G (autosomal recessive)
Identifiers
Symbols	USH1G ; ANKS4A; FLJ33924; SANS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 56113
Gene ontology Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE USH1G gnf1h10421 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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

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).

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)