MAB21L2 (Mab-21 Like 2) is a Protein Coding gene. It encodes a protein similar to C. elegans mab-21 cell fate-determining factor. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. MAB21L2 belongs to the mab-21 family. It is required for several aspects of embryonic development including normal development of the eye. It is thought that this gene may also be involved in neural development. The identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole-exome variation in humans. Diseases associated with MAB21L2 include Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome and Microphthalmia.
TMPY-02306
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