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These findings support 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.
Despite the absence of conserved non-coding elements, a 4.9-kb mab21l2 promoter is sufficient to recapitulate expression in tissues unique to mab21l1 (show MAB21L1 Proteins) or mab21l2.
mab21l2 is an early downstream effector of rx3 and is critical for survival of eye progenitors.
The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2.
This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations.
In mouse embryos, Mab21l2 showed strong expression in the developing eye, pharyngeal arches, and limb bud.
Mab21l2 plays a crucial role in both heart and liver development through septum transversum mesenchyme (STM) formation.
Results reveal that Mab21l2 plays crucial roles in retina and in ventral body wall formation.
This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed.
protein mab-21-like 2