蛋白名称
Homeobox protein SIX3 (Sine oculis homeobox homolog 3)
免疫原
Synthesized peptide derived from part region of human protein
特异性
SIX3 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009],
功能
disease:Defects in SIX3 are the cause of holoprosencephaly type 2 (HPE2) [MIM:157170]. Holoprosencephaly (HPE) [MIM:236100] is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.,function:May be involved in visual system development.,similarity:Belongs to the SIX/Sine oculis homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,
