DENND5B
Description
The DENND5B (DENN domain containing 5B) is a protein-coding gene located on chromosome 12.
DENND5B acts as a guanine nucleotide exchange factor (GEF), potentially activating RAB39A and/or RAB39B. It facilitates the exchange of GDP for GTP, thereby transforming inactive GDP-bound Rab proteins into their active GTP-bound form.
DENND5B is also known as -.
Associated Diseases
- schizophrenia
- congenital diarrhea 7 with exudative enteropathy
- bile acid malabsorption, primary, 1
- chylomicron retention disease
- MPI-congenital disorder of glycosylation
- congenital short bowel syndrome
- hypercholanemia, familial 1
- pancreatic triacylglycerol lipase deficiency
- cholesteryl ester storage disease
- progressive familial intrahepatic cholestasis type 2
