SIX homeobox 5
The gene SIX5 encodes a transcription factor that combines with EYA1 to activate several genes required to develop eye, ear, branchial arches, and kidney. Mutations in these two genes cause a similar clinical picture. Branchiootorenal dysplasia syndrome 2 is autosomal dominant.
Genetests:
Related Diseases:
References:
1. |
Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
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2. |
Boucher CA et al. (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
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3. |
Orphanet article
Orphanet ID 138472
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4. |
NCBI article
NCBI 147912
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5. |
OMIM.ORG article
Omim 600963
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6. |
Wikipedia article
Wikipedia EN (SIX5)
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Update: Aug. 14, 2020