UBR7

Molecular Characteristics

UBR7 encodes one of the seven different E3 ubiquitin ligases. These proteins play a role in the ubiquitin-proteasome degradation pathway by mediating target protein recognition. They therefore regulate the half-life of specific proteins based on their N-terminal sequences. UBR7 plays a role in neurogenesis, cardiovascular development, histone turnover regulation, and spermatogenesis. In C. elegans, it has been shown that UBR7 is expressed in a variety of cells, including ciliated and non-ciliated neurons and distal tip cells (DTCs) and regulate a Notch signaling-dependent developmental pathway together with UBR5.

Biallelic variants have been identified in seven individuals from six unrelated families. Homozygous and compound heterozygous mutations in the UBR7 gene were found. Nonsense, frameshift, missense, deletion and splice site variants were identified. All reported variants can be detected by sequencing UBR7, either in a single-gene testing approach, as part of a multigene panel or by exome/genome sequencing.