This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT).
Aliases: ANOP3; MCOPS3
Entrez GeneID: 6657
Swissprot: P48431
WB Predicted band size: 34kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Mouse,Rat,Rabbit,Monkey
Immunogen: Purified recombinant fragment of human SOX2 expressed in E. Coli.
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