DISEASES

Disease-gene associations mined from literature

Literature associating DENND4C and Koolen de Vries syndrome

DENND4C [ENSP00000473565]

DENN domain-containing protein 4C; Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin; DENN/MADD domain containing

Synonyms:  DENND4C,  DENND4Cp,  hDENND4C,  Q5VZ89,  R4GN35 ...

Linkouts:  STRING  Pharos  UniProt