Genomes and Genes
Gene Symbol: ALG8
Description: ALG8, alpha-1,3-glucosyltransferase
Alias: CDG1H, PCLD3, HUSSY-02, asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein, asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase), asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase), asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog, asparagine-linked glycosylation protein 8 homolog, dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase, dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase, dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase, dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase, dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase
- Díaz Barrera A, Maturana N, Pacheco Leyva I, MARTINEZ I, Altamirano C. Different responses in the expression of alginases, alginate polymerase and acetylation genes during alginate production by Azotobacter vinelandii under oxygen-controlled conditions. J Ind Microbiol Biotechnol. 2017;44:1041-1051 pubmed publisher..However, chemostat at 1% DOT showed a downregulation up to 20-fold in genes encoding both the alginate polymerase (alg8, alg44), alginate acetylases (algV, algI) and alginate lyase AlgL...
- HÃ¶ck M, Wegleiter K, Ralser E, Kiechl Kohlendorfer U, Scholl BÃ¼rgi S, Fauth C, et al. ALG8-CDG: novel patients and review of the literature. Orphanet J Rare Dis. 2015;10:73 pubmed publisher..b>ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement ..
- Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T. Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. Mol Genet Metab. 2009;98:305-9 pubmed publisher..The two siblings show similar symptoms, including pseudo-gynecomastia, epicanthus, muscular hypotonia, mental retardation and ataxia, expanding the genetic and clinical spectrum of CDG-Ih. ..
- Marques da Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira P, Witters P, et al. Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis. 2017;40:195-207 pubmed publisher..disease but not as a striking, unique or predominant feature, including PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG...
- Besse W, Dong K, Choi J, Punia S, Fedeles S, Choi M, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017;127:1772-1785 pubmed publisher..common PCLD genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B...
- Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber D, Morava E. Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. Pediatr Dermatol. 2014;31:e1-5 pubmed..Ichthyosis is also common in several types of CDG. ALG8-CDG is a severe disorder characterized by dysmorphic features, failure to thrive, protein-losing enteropathy, ..
- Cornec Le Gall E, Torres V, Harris P. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. J Am Soc Nephrol. 2018;29:13-23 pubmed publisher..have been associated with ADPKD (PKD1 and PKD2), ADPLD (PRKCSH, SEC63, LRP5, ALG8, and SEC61B), or both (GANAB)...
- Schollen E, Frank C, Keldermans L, Reyntjens R, Grubenmann C, Clayton P, et al. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J Med Genet. 2004;41:550-6 pubmed
- Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier Barrot S, et al. A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J Biol Chem. 2003;278:9962-71 pubmed..As the cells from the patient were successfully complemented with wild type hALG8 cDNA, we conclude that these mutations are the underlying cause of this new CDG I subtype that we propose be called CDG Ih. ..
- van de Laarschot L, Drenth J. Genetics and mechanisms of hepatic cystogenesis. Biochim Biophys Acta Mol Basis Dis. 2018;1864:1491-1497 pubmed publisher..polycystic liver disease (ADPLD) is associated with germline mutations in PRKCSH, SEC63, LRP5, and recently ALG8 and SEC61. GANAB mutations are found in both patient groups...
- Oriol R, Martinez Duncker I, Chantret I, Mollicone R, Codogno P. Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate. Mol Biol Evol. 2002;19:1451-63 pubmed..family (ALG9, PIG-B, and SMP3) and the two members of the alpha 3-glucosyltransferase family (ALG6 and ALG8) shared 11 and 30 identical amino acid positions, respectively, suggesting that these enzymes have also originated ..
- Sorte H, Mørkrid L, Rødningen O, Kulseth M, Stray Pedersen A, Matthijs G, et al. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. Eur J Med Genet. 2012;55:196-202 pubmed publisher..function of the enzyme dolichyl pyrophosphate Glc(1)Man(9)GlcNAc(2) alpha-1,3-glucosyltransferase encoded by the ALG8 gene, causes ALG8-CDG (CDG-Ih, OMIM #608104)...
- Jaeken J. Congenital disorders of glycosylation (CDG): update and new developments. J Inherit Metab Dis. 2004;27:423-6 pubmed..It was concluded that we are still at the beginning of 'explosive' research on CDG and that we need to apply new and known technologies to the diagnosis, understanding of pathophysiology, and treatment of CDG. ..
- Zhang Q, Howell P, Overkleeft H, Filippov D, van der Marel G, Codée J. Chemical synthesis of guanosine diphosphate mannuronic acid (GDP-ManA) and its C-4-O-methyl and C-4-deoxy congeners. Carbohydr Res. 2017;450:12-18 pubmed publisher..reported here delivers multi-milligram amounts of the GDP-ManA donor that can be used to study the polymerase (Alg8 in Pseudomonas aeruginosa) that generates the poly-ManA chain...
- Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, et al. Characterization of 16 novel human genes showing high similarity to yeast sequences. Yeast. 2001;18:69-80 pubmed..More information on this work can be obtained at the website http://grup.bio.unipd.it/hussy ..
- Jaeken J, Carchon H. Congenital disorders of glycosylation: a booming chapter of pediatrics. Curr Opin Pediatr. 2004;16:434-9 pubmed..Therefore, it is strongly recommended that congenital disorders of glycosylation be considered in any child with an unexplained clinical syndrome. ..