Homeobox protein SIX2
The SIX2 gene encodes a transcription factor that is involved in development of the renal and hearing systems.
Genetests:
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Related Diseases:
Branchiootorenal dysplasia
|
||||
|
Branchiootorenal dysplasia 1
|
|||
|
|
EYA1
|
||
|
|
Branchiootorenal dysplasia 2
|
|||
|
|
|
SIX5
|
||
|
SIX2
|
|||
|
Townes-Brocks branchiootorenal-like syndrome
|
|||
|
|
|
SALL1
|
||
|
|
|
|
|
References:
| 1. |
Oliver G et. al. (1995) Homeobox genes and connective tissue patterning. [^] |
| 2. |
Boucher CA et. al. (2000) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. [^] |
| 3. |
Mao Z et. al. (2017) TβRII Regulates the Proliferation of Metanephric Mesenchyme Cells through Six2 In Vitro. [^] |
| 4. |
Chung E et. al. (2016) Notch signaling promotes nephrogenesis by downregulating Six2. [^] |
| 5. |
Liu J et. al. (2016) Six2 Is a Coordinator of LiCl-Induced Cell Proliferation and Apoptosis. [^] |
| 6. |
Guan J et. al. (2016) SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. [^] |
| 7. |
None () Correction: Postembryonic Nephrogenesis and Persistence of Six2-Expressing Nephron Progenitor Cells in the Reptilian Kidney. [^] |
