DENN domain-containing protein 1A (DENND1A)

DENN domain-containing protein 1A (DENND1A) is a protein that functions as a guanine nucleotide exchange factor (GEF) for the small GTPase Rab35, regulating clathrin-mediated endocytosis and vesicular trafficking[2][3][4]. It is characterized by an N-terminal DENN domain, along with binding motifs for clathrin, clathrin adaptor protein-2 (AP-2), and Src homology 3 (SH3) domains[1][2]. DENND1A is highly expressed in brain and testis and plays a crucial role in the endosomal recycling process[2][3]. Genetic variations and aberrant expression, especially of the truncated DENND1A.V2 isoform, have been associated with polycystic ovary syndrome (PCOS) via increased steroidogenic enzyme gene expression and androgen biosynthesis in ovarian theca cells[1][4]. While mechanistic insights implicate DENND1A in the pathogenesis of PCOS, no drugs are currently approved to target it directly[3][4].

Other names

DENND1AConnecdenn 1FAM31AKIAA1608FLJ21129