The cpeb1 gene encodes a sequence-specific cytoplasmic polyadenylation element-binding protein, an RNA-binding protein regulating mRNA translation through cytoplasmic polyadenylation. It is expressed i...[+]

The cpeb1 gene encodes a sequence-specific cytoplasmic polyadenylation element-binding protein, an RNA-binding protein regulating mRNA translation through cytoplasmic polyadenylation. It is expressed in the oocyte and early embryo, localized to the cytoplasm and germ plasm granules. This protein controls the polyadenylation and translational activation of specific maternal mRNAs during oocyte maturation and is required for meiotic progression. It also regulates cell cycle progression and is involved in germ layer specification and axial patterning during embryogenesis. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD