The KHDC3L gene provides instructions for making a protein whose role is not known. The KHDC3L protein is thought to be involved in regulating gene activity (expression) through a phenomenon known as genomic imprinting. Through genomic imprinting, certain genes are turned off (inactivated) based on which parent the copy of the gene came from. For most genes, both copies of the gene (one copy inherited from each parent) are active in all cells. However, for a small subset of genes, only one of the two copies is active and the other is turned off. For some of these genes, the copy from the father is normally active, while for others, the copy from the mother is normally active.
It is likely that the KHDC3L protein has additional roles in egg cell (oocyte) and embryonic development; however, its exact functions are unclear.
Other Names
C6orf221; ECAT1; ES cell-associated transcript 1 protein; HYDM2; KH domain containing 3-like, subcortical maternal complex member; KHDC3-like protein
Related Genetics Topics
Identifiers
- NCBI Gene: 154288
- OMIM: 611687
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
