SIX5 : SIX homeobox 5
Description
The SIX5 (SIX homeobox 5) is a protein-coding gene located on chromosome 19.
The SIX5 gene belongs to the SIX gene family, which encodes proteins that bind to DNA and regulate gene activity. These proteins, known as transcription factors, play a crucial role in development. SIX5 interacts with other proteins, including EYA1, to regulate genes important for the normal formation of various tissues before birth. These include the second branchial arch, ears, and kidneys. The SIX5 protein has also been found in adult tissues such as the brain, heart, eyes, and skeletal muscles.
SIX5 is a transcription factor that plays a crucial role in organ development. It is believed to be involved in the formation and maintenance of the retina. SIX5 binds to specific DNA sequences, including the ARE regulatory element in the ATP1A1 gene and the MEF3 element in the myogenin and IGFBP5 promoters. Its activity is regulated by interactions with Dach and Eya proteins, and it is thought to be activated by EYA1, EYA2, and EYA3.
SIX5 is also known as BOR2, DMAHP.
Associated Diseases
- BOR syndrome
- Branchiootorenal syndrome 2
- Branchiootorenal/branchiootic syndrome
- Congenital anomalies of kidney and urinary tract
