USP6NL

Chr 10

USP6 N-terminal like

Also known as: RNTRE, TRE2NL, USP6NL-IT1

NCBI Gene: 9712 ENSG00000148429 UniProt: Q92738 OMIM: 605405

The protein acts as a GTPase-activating protein for several RAB proteins and is involved in receptor trafficking and retrograde transport from endosomes to the Golgi apparatus. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy. The gene is highly constrained against loss-of-function variants, suggesting intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including plasma membrane to endosome transport; positive regulation of GTPase activity; and retrograde transport, plasma membrane to Golgi. Located in cytoplasmic vesicle and plasma membrane. Is active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

Multiple*

Mechanism· predicted