DENND1A
DENND1A encodes a DENN-domain-containing protein that acts as a guanine nucleotide exchange factor for the small GTPase Rab35, regulating endosomal membrane trafficking and recycling. An alternatively spliced isoform, DENND1A.V2, is overexpressed in ovarian theca cells of women with polycystic ovary syndrome, where it upregulates steroidogenic enzyme genes and drives excess androgen biosynthesis; GWAS variants near DENND1A, including rs10818854, are among the most consistently replicated genetic risk signals for PCOS.
Traits DENND1A shapes
Markers (rsIDs)
Reference databases
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