Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

Ankyrin Repeat- And SOCS Box-Containing Protein 3

Alternative Names Monies et al. (2017) investigated the findings of ASB3 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. Record Category One patient, a 10-year-old female, presented with Gene locus ataxia, dystonia and hypertonia. An MRI revealed bilateral basal ganglia disease. The patient was WHO-ICD from a consanguineous family and had a brother N/A to gene loci with epilepsy. Using whole exome sequencing, a homozygous mutation (c.386-3T>C) was identified Incidence per 100,000 Live Births in exon 5 of the patient’s ASB3 gene. This gene N/A to gene loci mutation was considered a candidate for pathogenicity as it was a novel variant located OMIM Number within the autozygome that was predicted to be 605760 deleterious, and the ASB3 gene is expressed in the forebrain. The authors noted that further studies are Mode of Inheritance required to independently confirm this association. N/A to gene loci References Gene Map Locus Monies D, Abouelhoda M, AlSayed M, Alhassnan 2p16.2 Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Description Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes The ASB3 gene encodes a protein belonging to the B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, ankyrin repeat and SOCS box-containing (ASB) Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al family. The ASB3 protein forms the substrate- Saud BK, Kurdi W, Makhseed N, Alqasim T, El recognition component of an E3 ubiquitin ligase Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, complex. This complex carries out the Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, ubiquitination of target proteins, which is a post- Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, translational modification that demarcates them for Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout subsequent proteasomal degradation. ASB3 is also R, Dabbagh O, Shagrani M, Broering D, Tulbah M, believed to play a role in intracellular signal Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, transduction. Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Molecular Genetics Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, The ASB3 gene is located on the short arm of Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, chromosome 2. It spans a length of 254.9 kb of Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh DNA and its coding sequence is contained within H, AlGhonaium A, Alkharfy TM, Al Mutairi F, 10 exons. The gene encodes a 57.7 kDa protein Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani product composed of 518 amino acids. Several FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, additional isoforms of the ASB3 protein exist due Alenizi AS, Hussein MH, Hassan S, Khalil M, to alternatively spliced transcript variants. The gene Tabarki B, Alshahwan S, Oshi A, Sabr Y, is found to be expressed in the nervous system, Alsaadoun S, Salih MA, Mohamed S, Sultana H, kidneys and lungs. Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Epidemiology in the Arab World Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The landscape of genetic diseases in Saudi Arabia based Saudi Arabia on the first 1000 diagnostic panels and exomes.

Hum Genet. 2017 Aug;136(8):921-939. PMID: http://www.genecards.org/cgi- 28600779. bin/carddisp.pl?gene=ASB3

Related CTGA Records Contributors Sayeeda Hana External Links 03.08.2017