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

NUDIX Hydrolase 2

Alternative Names transcript variants that all encode the same protein. NUDT2 The gene is found to be overexpressed in peripheral Nucleoside Diphosphate-Linked Moiety X Motif 2 blood mononuclear cells and oral epithelium. NUDIX Motif 2 AP4A Hydrolase 1 Epidemiology in the Arab World APAH1 Saudi Arabia Anazi et al. (2016) determined the effectiveness of Record Category genomic tools in diagnosing Intellectual Disability Gene locus (ID) cases. The authors carried out molecular karyotyping, exome sequencing and sequencing by WHO-ICD a neurological gene panel on 337 ID patients. N/A to gene loci Genomic tools were found to have a higher diagnostic yield than standard clinical evaluations Incidence per 100,000 Live Births (58% vs 16%). In a 10-year-old female patient and N/A to gene loci her 7-year-old sister, this approach uncovered a homozygous c.34C>T (p.Arg12*) mutation in the OMIM Number NUDT2 gene. The mutation was considered causal 602852 as it was a loss-of function variant, had a minor allele frequency <0.001 based on 1500 Saudi Mode of Inheritance exomes, fully segregated with the phenotype and N/A to gene loci there were no other candidate variants. It was further noted that positional mapping in the Gene Map Locus multiplex family established a single locus 9p13.3 spanning NUDT2. The patients were born to consanguineous parents and suffered from ID, Description developmental delay, hypotonia and mild The NUDT2 gene encodes the NUDIX Hydrolase 2 dysmorphia. enzyme, also known as AP4A hydrolase. This protein possesses a modification of the MutT References sequence motif and hence belongs to the MutT Anazi S, Maddirevula S, Faqeih E, Alsedairy H, family of nucleotide pyrophosphatases. These Alzahrani F, Shamseldin HE, Patel N, Hashem M, enzymes are a subset of the larger NUDIX family Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al of nucleotide hydrolases that function to eliminate Sharif H, Alamoudi W, Kentab A, Bashiri FA, toxic nucleotide metabolites from the cell. The Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, specific function of NUDT2 is to asymmetrically Hashem A, Al Asmari A, Saleh MM, AlSaman A, hydrolyze AP4A resulting in AMP and ATP, Alhasan KA, Alsughayir M, Al Shammari M, thereby maintaining the intracellular level of AP4A. Mahmoud A, Al-Hassnan ZN, Al-Husain M, It is also suggested that NUDT2 may be a candidate Osama Khalil R, Abd El Meguid N, Masri A, Ali R, tumor suppressor gene. Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Molecular Genetics Altassan N, Arold ST, Abouelhoda M, Wakil SM, The NUDT2 gene is located on the short arm of Monies D, Shaheen R, Alkuraya FS. Clinical chromosome 9, at position 9p13.3. It spans a length genomics expands the morbid genome of of 14 kb of DNA and its coding sequence is intellectual disability and offers a high diagnostic contained in 5 exons. The encoded protein product yield. Mol Psychiatry. 2016 Jul 19. PMID: has a molecular mass of 16.8 kDa and is made up of 27431290. 147 amino acids. Alternative splicing results in four

Related CTGA Records Contributors External Links Sayeeda Hana http://www.genecards.org/cgi- 21.01.2017 bin/carddisp.pl?gene=NUDT2