UBA6

UBA6

A gene on chromosome 4q13.2 that encodes an enzyme which activates ubiquitin and may play a role in spermatogenesis and male fertility.
References in periodicals archive ?
Moreover, in UBA6 brain-specific knockout mouse, it was revealed that autistic symptoms were observed in the absence of UBA6 (1).
According to these aspects, mouse models in ASD, such as UBA6 brain-specific knockout mouse, suggest a relation of ubiquitination and autism.
UBA6 (ubiquitin-like modifier-activating enzyme 6) has been associated with a role in neurological developmental and behaviour disorders in mice models, has a HI score of 26.21%, and therefore may have a dosage effect [2].
Smaller deletions have also been recorded in association with mild intellectual disability, and UBA6 was also proposed as a candidate gene [7].