DENND6B
Description
The DENND6B (DENN domain containing 6B) is a protein-coding gene located on chromosome 22.
DENND6B acts as a guanine nucleotide exchange factor (GEF) for RAB14, facilitating the activation of this small GTPase. It also displays a weaker GEF activity towards RAB35, suggesting a potential role in regulating the activity of this GTPase as well.
DENND6B is also known as AFI1B, FAM116B.
Associated Diseases
- schizophrenia
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
