• Thumbnail for USH1G
    syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene. This gene encodes a protein that contains three ankyrin repeat domains...
    4 KB (543 words) - 19:56, 11 August 2024
  • Thumbnail for Usher syndrome
    in any one of several different genes: CDH23, MYO7A, PCDH15, USH1C and USH1G. These genes function in the development and maintenance of inner ear structures...
    34 KB (3,528 words) - 20:30, 29 October 2024
  • Thumbnail for Human genome
    worldwide SMPD1 Usher syndrome 1:23000 in the U.S. 1:28000 in Norway 1:12500 in Germany CDH23, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A...
    99 KB (10,142 words) - 15:38, 13 October 2024
  • 000-2,500 live female births Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive 3-6:100,000 (type I) Variegate porphyria...
    42 KB (983 words) - 18:14, 6 October 2024
  • Thumbnail for Chromosome 17
    ACTG1: actin, gamma 1 (17q25) CDC42EP4: CDC42 effector protein 4 (17q25.1) USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1) CANT1: Calcium-activated...
    26 KB (1,947 words) - 21:00, 6 October 2024
  • Q15853 17941 USF3 HGNC:30494 Q68DE3 17942 USH1C HGNC:12597 Q9Y6N9 17943 USH1G HGNC:16356 Q495M9 17944 USH2A HGNC:12601 O75445 17945 USHBP1 HGNC:24058...
    242 KB (17 words) - 18:43, 6 October 2024
  • Thumbnail for Ankyrin repeat
    TRPC4; TRPC5; TRPC6; TRPC7; TRPV1; TRPV2; TRPV3; TRPV4; TRPV5; TRPV6; UACA; USH1G; ZDHHC13; ZDHHC17; DARPin (designed ankyrin repeat protein), an engineered...
    14 KB (1,393 words) - 19:22, 1 December 2023
  • Thumbnail for Sterile alpha motif
    SCMH1; SCML1; SCML2; SEC23IP; SGMS1; SHANK1; SHANK2; SHANK3; STARD13; UBP1; USH1G; ZCCHC14; p63; p73; Bork P, Ponting CP, Hofmann K, Schultz J (1997). "SAM...
    8 KB (835 words) - 11:45, 22 March 2024
  • Thumbnail for CDH23
    Gal A, Ayadi H, Yonekawa H, Petit C (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates...
    10 KB (1,364 words) - 16:01, 13 October 2024
  • Thumbnail for USH1C
    Mustapha M, Kikkawa Y, Lainé S, et al. (March 2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates...
    26 KB (2,858 words) - 04:18, 28 November 2023