Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
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.

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2.

Boucher CA et al. (2000) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.

external link
3.

Mao Z et al. (2017) TβRII Regulates the Proliferation of Metanephric Mesenchyme Cells through Six2 In Vitro.

external link
4.

Chung E et al. (2016) Notch signaling promotes nephrogenesis by downregulating Six2.

external link
5.

Liu J et al. (2016) Six2 Is a Coordinator of LiCl-Induced Cell Proliferation and Apoptosis.

external link
6.

Guan J et al. (2016) SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

external link
7.

None () Correction: Postembryonic Nephrogenesis and Persistence of Six2-Expressing Nephron Progenitor Cells in the Reptilian Kidney.

external link
8.

NCBI article

NCBI 10736 external link
9.

OMIM.ORG article

Omim 604994 external link
10.

Orphanet article

Orphanet ID 496461 external link
11.

Wikipedia article

Wikipedia EN (SIX2) external link
Update: Aug. 14, 2020
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