KH domain containing 1 (KHDC1)

KH domain containing 1 (KHDC1) is an RNA-binding protein characterized by an atypical KH domain and is highly expressed in oocytes and embryonic stem cells[1][3][4][5]. KHDC1 is predicted to mediate identical protein binding and poly(U) RNA binding, and is thought to be active in the cytoplasm and associated with membranes[1][5]. Functional studies, particularly of the KHDC1A isoform, show the protein acts as a global translational repressor and induces caspase-3 dependent apoptosis through an endoplasmic reticulum-dependent signaling pathway[1][3]. It interacts with translational regulators such as CPEB and plays key roles in early embryonic development and oocyte maturation[1][3][4]. There is no evidence that KHDC1 functions as a classic druggable therapeutic target (e.g., receptor, enzyme), nor are there approved or experimental drugs known to modulate its function[1][3][5]. Disease associations are limited, though gene variants may be linked to facioscapulohumeral muscular dystrophy[5].

Other names

KHDC1ANDG1C6orf148C6orf147BA257K9.4MGC10818Em:AC019205.8KH homology domain-containing protein 1Putative KHDC1-like protein