ANKRD17
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Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene. This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome. Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.
Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene. This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome. Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.
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