DISEASES

Disease-gene associations mined from literature

Literature associating DENND1A and polycystic ovary syndrome

DENND1A [ENSP00000362727]

DENN domain-containing protein 1A; Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes. Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity); DENN/MADD domain containing

Synonyms:  DENND1A,  DENND1Ap,  hDENND1A,  Q8TEH3,  FAM31A ...

Linkouts:  STRING  Pharos  UniProt  OMIM