ECAT1 抗体
(KH Domain Containing 3-Like, Subcortical Maternal Complex Member (KHDC3L))
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].
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Latest Publications for our ECAT1 抗体
: "NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton." in: Human reproduction (Oxford, England), Vol. 30, Issue 1, pp. 159-69, (2014) (PubMed).: "Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7." in: European journal of human genetics : EJHG, Vol. 21, Issue 9, pp. 957-64, (2013) (PubMed).
Aliases for ECAT1 抗体
KH domain containing 3 like, subcortical maternal complex member (KHDC3L) 抗体C6orf221 抗体
ECAT1 抗体
HYDM2 抗体
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