background:
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.
Tissue Specificity:
Expression 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.
DISEASE:
Defects in KHDC3L are the cause of hydatidiform mole recurrent type 2 (HYDM2) [MIM:614293]. A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.
Similarity:
Belongs to the KHDC1 family.
Contains 1 KH domain.
Database links:
Entrez Gene: 154288 Human
Omim: 611687 Human
SwissProt: Q587J8 Human
Unigene: 128326 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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