Gene Symbol | KHDC3L |
Entrez Gene ID | 154288 |
Full Name | KH domain containing 3 like, subcortical maternal complex member |
Synonyms | C6orf221,ECAT1,HYDM2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Hydatidiform mole, recurrent, 2, 614293 (3) |