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 atalogue for ransmission enetics in rabs C T G A CTGA Database Golgi Autoantigen, Golgin Subfamily A, 2 Alternative Names isoform is made up of 620 amino acids and has a GOLGA2 mass of 70 kDa. Golgin 95 GM130 Epidemiology in the Arab World Record Category Saudi Arabia Gene locus Shamseldin et al. (2016) studied a 10.5-month-old girl suffering from a multi-system disorder. The WHO-ICD child was born to healthy, double first cousin N/A to gene loci parents after two previous miscarriages. The patient’s symptoms included infantile spasms, Incidence per 100,000 Live Births hypotonia, progressive microcephaly, strabismus, a N/A to gene loci thin corpus callosum, muscular dystrophy, and an inability to thrive. Whole exome sequencing OMIM Number helped uncover a homozygous 4 bp deletion in the 602580 GOLGA2 gene (c.1266_1269del, p.Glu423Argfs*6). Immunoblotting tests failed to Mode of Inheritance detect the GOLGA2 protein, indicating that the N/A to gene loci mutation results in a complete loss of GOLGA2. Knockdown of the GOLGA2 gene in zebrafish led Gene Map Locus to skeletal defects, muscle dysfunction and 9q34.11 microcephaly. Overexpressing the human GOLGA2 mRNA led to a significant rescue of Description muscle and brain abnormalities in mutant zebrafish. The Golgi Apparatus is a membrane bound cell This helped support the theory that the loss of organelle that is involved in the modifying, sorting, GOLGA2 in humans could result in severe and packaging of proteins for secretion. The phenotypes. However, the authors stated that more GM130 protein, encoded by the GOLGA2 gene, is studies were required to confirm this association. an important component of this organelle and plays a key role in maintaining its structure. The protein References acts as a vesicle tether and helps with the fusion of Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, the vesicle at the Golgi membrane. It is also Alkuraya FS. GOLGA2, encoding a master involved in mitotic Golgi disassembly, spindle pole regulator of golgi apparatus, is mutated in a patient assembly, centrosome organization, Golgi ribbon with a neuromuscular disorder. Hum Genet. 2016; formation, and glycosylation of membrane and 135(2):245-51. PMID: 26742501. secretory proteins. Deficiency of the GOLGA 2 protein can thus negatively affect the Golgi Related CTGA Records Apparatus, resulting in its fragmentation. Molecular Genetics External Links The GOLGA2 gene is located on the long arm of https://www.genecards.org/cgi- chromosome 9. It is 20 kb long and its coding bin/carddisp.pl?gene=GOLGA2 sequence is made up of 27 exons. The protein https://www.ncbi.nlm.nih.gov/gene/2801 encoded by this gene is made up of 1002 amino acids and has a mass of 113 kDa. Alternative Contributors splicing of the gene transcript results in an Sayeeda Hana: 07.10.2016 additional isoform of the GOLGA2 protein. This Copyright © Centre for Arab Genomic Studies 1 Copyright © Centre for Arab Genomic Studies 2 .

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Supplemental Note Hominoid Fission of Chromosome 14/15 and Role Of
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