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KH domain-containing 3-like, subcortical maternal complex member (KHDC3L)
- Target
- KHDC3L
- Molecular classification
- Other (maternal effect gene; subcortical maternal complex component), RNA-binding protein (contains atypical KH domain)
01
Overview
KH domain-containing 3-like protein (KHDC3L) is a maternal effect protein expressed specifically in oocytes and early embryos. It is a core component of the subcortical maternal complex (SCMC), which is essential for early embryonic development and proper cell division after fertilization. KHDC3L plays a major role in regulation of DNA methylation and genomic imprinting, spindle assembly, chromosome segregation, and maintenance of genome stability in the zygote and early embryo. Mutations in KHDC3L lead to loss of function, causing recurrent biparental hydatidiform mole and recurrent pregnancy loss, and are associated with epigenetic and chromosomal abnormalities in early embryogenesis[1][3][5][6]. The protein contains an atypical KH RNA-binding domain and is unique to oocytes and pluripotent cells, underpinning early developmental competence but is not a conventional drug or therapeutic target.
- Other names
- C6orf221ECAT1ES cell-associated transcript 1 proteinHYDM2KHDC3-like protein
02
Biological functions
Regulation of genomic imprinting in oocyteDNA double-strand break repair (recruitment of DNA repair machinery)Maintenance of euploidy during embryonic cleavageCell cycle progression during oocyte maturation and pre-implantation embryo developmentRegulation of actin dynamics and mitotic spindle assemblyPromotion of neural stem cell neurogenesis and hippocampal neuronal differentiation
03
Disease associations
Recurrent biparental complete hydatidiform moleRecurrent pregnancy lossDevelopmental failure in embryos (early embryonic lethality)
04
Biomarkers
Mutations in KHDC3L as marker for recurrent hydatidiform moleLoss-of-function variants in maternal recurrent pregnancy loss cases
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