Description
Product Characteristics:
ECAT1 (ES cell-associated transcript 1 protein) is a 217 amino acid protein that belongs to the KHDC1 family. The ECAT1 protein contains an atypical KH domain with amino acid changes at critical sites, suggesting that it may not bind RNA. Expression of ECAT1 appears to be maximal in germinal vesicle oocytes, it tails off through metaphase II oocytes and is undetectable following the completion of the oocyte to embryo transition. Specifically expressed in the oocytes, recent studies suggest that ECAT1 may function as a regulator of genomic imprinting in the oocyte. Defects in ECAT1 are the cause of hydatidiform mole recurrent type 2 (HYDM2), a disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. HYDM2 leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.
Subcellular location: Cytoplasm, Nucleus
Synonyms: C6orf221, Chromosome 6 open reading frame 221, ES cell-associated transcript 1 protein, HYDM2, KHD3L_HUMAN, KHDC3-like protein, KHDC3L.
Target Information: 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]