Overview:

OTU domain containing 6B (OTUD6B) belongs to the ovarian tumor domain containing subfamily of deubiquitinating enzymes (DUBs), which inhibit protein degradation mediated by ubiquitination through removing ubiquitin (1). OTUD6B regulates protein synthesis in non-small cell lung cancer (NSCLC) cells via mTORC1, cyclin D1, and c-Myc protein stability (2). It is reported that an intellectual disability syndrome is caused by the bialllelic pathogenic variants in OTUD6B (3).

Gene Aliases:

DUBA5; CGI-77; DUBA-5; IDDFSDA

Genbank Number:

NM_016023

References:

1. Sowa ME, et al. Defining the human deubiquitinating enzyme interaction landscape. Cell. 2009 Jul 23;138(2):389-403.

2. Sobol A, et al. Deubiquitinase OTUD6B Isoforms Are Important Regulators of Growth and Proliferation. Mol Cancer Res. 2017 Feb;15(2):117-127.

3. Santiago-Sim T, et al. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676-688.