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The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole.
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Protein Aliases: ES cell-associated transcript 1 protein; KH domain containing 3-like, subcortical maternal complex member; KH domain-containing protein 3; KHDC3-like protein
Gene Aliases: C6orf221; ECAT1; HYDM2; KHDC3L
UniProt ID: (Human) Q587J8
Entrez Gene ID: (Human) 154288
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