This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [From RefSeq]
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [From RefSeq]
CHX10 gene is located on the long arm of chromosome 14 at 14q24.3. The CHX10 coding sequence consists of five exons and four introns. The CHX10 protein is 361 amino acids long and weighs approximately 39 KDa. It is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina.
CHX10 gene mutations have been implicated in autosomal recessive microphthalmia in both human and mice. Furthermore, CHX10 mutations cause about 2% of isolated microphthalmia.