USP6NL
Description
The USP6NL (USP6 N-terminal like) is a protein-coding gene located on chromosome 10.
USP6NL protein, encoded by the USP6NL gene in humans, is a protein that is similar to the N-terminus of USP6.
USP6NL acts as a GTPase-activating protein for RAB5A and RAB43. It plays a role in receptor trafficking, specifically inhibiting the internalization of EGFR when in complex with EPS8. USP6NL is involved in retrograde transport from the endocytic pathway to the Golgi apparatus. It facilitates the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. USP6NL is essential for maintaining the structural integrity of the Golgi complex.
USP6NL is also known as RNTRE, TRE2NL, USP6NL-IT1.
Associated Diseases
- Alzheimer disease
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- follicular lymphoma
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
