gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

SIX homeobox 5

SIX5, DMAHP, DM locus-associated homeodomain protein
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009] (from NCBI)
Sponsored links
Papers on SIX5
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
GeneRIF
Hsu et al., Taipei, Taiwan. In Laryngoscope, 2012
In East Asian populations, a SIX1 mutation has been reported in a Japanese family with branchio-oto (BO) syndrome,yet SIX5 mutations have never been reported.
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
GeneRIF
Heidet et al., Paris, France. In Hum Mutat, 2011
Study reports a screening of 140 patients from 124 families with Branchio-oto-renal and identified 36 EYA1 mutations in 42 unrelated patients, 2 mutations, and 1 change of unknown significance in SIX1 in 3 unrelated patients, but no mutation in SIX5.
Six family genes control the proliferation and differentiation of muscle satellite cells.
GeneRIF
Kawakami et al., Tochigi, Japan. In Exp Cell Res, 2010
Six4 and Six5 repressed, while Six1 activated myogenin expression, suggesting that the differential regulation of myogenin expression is responsible for the differential effects of Six genes
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.
GeneRIF
Reddy et al., Los Angeles, United States. In Plos One, 2009
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
GeneRIF
Hildebrandt et al., Ann Arbor, United States. In Am J Hum Genet, 2007
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
share on facebooktweetadd +1mail to friends