DENND6B

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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