≡

SIX Homeobox Protein 3 (SIX3)

[Edit]

HPE2; Holoprosencephaly 2,Alobar Or Semilobar; Sine Oculis Homeobox Homolog 3

SIX Homeobox Protein 3 (SIX3)
CCC K010
HGNC 10889
MGI 102764
PubMed 21936910
RGD 620909
UniProt O95343
Wiki SIX3
SIX3 shares 98% and 88% identity with the mouse and chicken Six3 proteins, respectively, and all 3 proteins have identical SIX and homeobox domains. Northern blot analysis revealed that the SIX3 gene was expressed as an approximately 3-kb mRNA only in the eye. In situ hybridization to fetal and adult human retinal tissues indicated that the SIX3 gene was expressed in the ganglion cells and in cells of the inner nuclear layer. This expression pattern was maintained in the fully differentiated eye. Six3 is involved in a process by which positional information is established at the anterior boundary of the developing mouse embryo. Six3 appears to be the mouse functional homolog of Drosophila 'so,' since the proteins share extensive sequence identity and Six3 is expressed during mouse eye development.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SIX Homeobox Protein 3 (SIX3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SIX Homeobox Protein 3 (SIX3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SIX Homeobox Protein 3 (SIX3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SIX Homeobox Protein 3 (SIX3) CLIA Kit Customized Service Offer
n/a ELISA Kit for SIX Homeobox Protein 3 (SIX3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SIX Homeobox Protein 3 (SIX3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SIX Homeobox Protein 3 (SIX3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SIX Homeobox Protein 3 (SIX3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SIX Homeobox Protein 3 (SIX3) CLIA Kit Customized Service Offer
n/a ELISA Kit for SIX Homeobox Protein 3 (SIX3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SIX Homeobox Protein 3 (SIX3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SIX Homeobox Protein 3 (SIX3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SIX Homeobox Protein 3 (SIX3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SIX Homeobox Protein 3 (SIX3) CLIA Kit Customized Service Offer
n/a ELISA Kit for SIX Homeobox Protein 3 (SIX3) ELISA Kit Customized Service Offer
  1. "Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene."Genomics 55:100-105(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Sequence and location of SIX3, a homeobox gene expressed in the human eye."Ophthalmic Genet. 20:7-21(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas."Cancer Res. 63:449-454(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Six3 and Six6 activity is modulated by members of the groucho family."Development 130:185-195(2003) [PubMed] [Europe PMC] [Abstract]
  6. "Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1."Hum. Mutat. 24:502-508(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Direct interaction of geminin and Six3 in eye development."Nature 427:745-749(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development."Dev. Biol. 324:322-333(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in the human SIX3 gene in holoprosencephaly are loss of function."Hum. Mol. Genet. 17:3919-3928(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly."Nat. Genet. 22:196-198(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations."Hum. Mutat. 24:43-51(2004) [PubMed] [Europe PMC] [Abstract]
  12. "SIX3 mutations with holoprosencephaly."Am. J. Med. Genet. A 140:2577-2583(2006) [PubMed] [Europe PMC] [Abstract]
  13. "The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes." Eur. J. Hum. Genet. 18:999-1005(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly."Hum. Genet. 127:555-561(2010) [PubMed] [Europe PMC] [Abstract]