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Overview
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Gene Accession: NP031400
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Background
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2).SIX6 (SIX Homeobox 6) is a Protein Coding gene. Diseases associated with SIX6 include Optic Disc Anomalies With Retinal And/Or Macular Dystrophy and Six6-Related Eye Disorders. Among its related pathways are Ectoderm Differentiation. GO annotations related to this gene include transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is SIX3.
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