The ASB3 gene encodes a protein belonging to the ankyrin repeat and SOCS box-containing (ASB) family. The ASB3 protein forms the substrate-recognition component of an E3 ubiquitin ligase complex. This complex carries out the ubiquitination of target proteins, which is a post-translational modification that demarcates them for subsequent proteasomal degradation. ASB3 is also believed to play a role in intracellular signal transduction.
The ASB3 gene is located on the short arm of chromosome 2. It spans a length of 254.9 kb of DNA and its coding sequence is contained within 10 exons. The gene encodes a 57.7 kDa protein product composed of 518 amino acids. Several additional isoforms of the ASB3 protein exist due to alternatively spliced transcript variants. The gene is found to be expressed in the nervous system, kidneys and lungs.
Monies et al. (2017) investigated the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 10-year-old female, presented with ataxia, dystonia and hypertonia. An MRI revealed bilateral basal ganglia disease. The patient was from a consanguineous family and had a brother with epilepsy. Using whole exome sequencing, a homozygous mutation (c.386-3T>C) was identified in exon 5 of the patient’s ASB3 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within the autozygome that was predicted to be deleterious, and the ASB3 gene is expressed in the forebrain. The authors noted that further studies are required to independently confirm this association.
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