Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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.

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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Update: Sept. 26, 2018