Ventral Anterior Homeobox 1 (VAX1) Antibody – Rabbit Polyclonal

VAX1: Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk. Defects in VAX1 are the cause of microphthalmia, syndromic, type 11 (MCOPS11). A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Belongs to the EMX homeobox family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; DNA-binding; Cell development/differentiation; Transcription factor

Cellular Component: nucleus

Molecular Function: DNA binding; sequence-specific DNA binding; chromatin DNA binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; nervous system development; axon guidance; camera-type eye development; central nervous system development; transcription, DNA-dependent; multicellular organismal development; neuron migration; negative regulation of transcription from RNA polymerase II promoter; palate development; negative regulation of neuroblast proliferation; regulation of transcription, DNA-dependent; brain development; cell differentiation