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 (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).

Synonyms:  DENND1A,  DENND1Ap,  hDENND1A,  A0A0A0MS48,  Q8TEH3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM