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Asparagine Linked Glycosylation Protein 6 (ALG6)

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Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Asparagine Linked Glycosylation Protein 6 (ALG6)
CCC K322
HGNC 23157
MGI 2444031
PubMed 14517965
RGD 1308815
UniProt Q9Y672
Wiki ALG6
ALG6 encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic.
Defects in ALG6 are the cause of congenital disorder of glycosylation type 1C (CDG1C) ; also known as carbohydrate-deficient glycoprotein syndrome type V. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1C patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Asparagine Linked Glycosylation Protein 6 (ALG6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Asparagine Linked Glycosylation Protein 6 (ALG6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Asparagine Linked Glycosylation Protein 6 (ALG6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Asparagine Linked Glycosylation Protein 6 (ALG6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Asparagine Linked Glycosylation Protein 6 (ALG6) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Asparagine Linked Glycosylation Protein 6 (ALG6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Asparagine Linked Glycosylation Protein 6 (ALG6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Asparagine Linked Glycosylation Protein 6 (ALG6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Asparagine Linked Glycosylation Protein 6 (ALG6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Asparagine Linked Glycosylation Protein 6 (ALG6) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Asparagine Linked Glycosylation Protein 6 (ALG6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Asparagine Linked Glycosylation Protein 6 (ALG6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Asparagine Linked Glycosylation Protein 6 (ALG6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Asparagine Linked Glycosylation Protein 6 (ALG6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Asparagine Linked Glycosylation Protein 6 (ALG6) ELISA Kit Customized Service Offer
  1. "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic."Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation."Am. J. Pathol. 157:1917-1925(2000) [PubMed] [Europe PMC] [Abstract]
  6. "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic."Hum. Genet. 106:538-545(2000) [PubMed] [Europe PMC] [Abstract]
  7. "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic."Mol. Genet. Metab. 70:219-223(2000) [PubMed] [Europe PMC] [Abstract]
  8. "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic."J. Hum. Genet. 46:547-548(2001) [PubMed] [Europe PMC] [Abstract]
  9. "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases." J. Med. Genet. 38:14-19(2001) [PubMed] [Europe PMC] [Abstract]
  10. "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)."Eur. J. Hum. Genet. 10:643-648(2002) [PubMed] [Europe PMC] [Abstract]
  11. "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency."Hum. Mol. Genet. 11:599-604(2002) [PubMed] [Europe PMC] [Abstract]
  12. "Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic."Hum. Mutat. 22:420-421(2003) [PubMed] [Europe PMC] [Abstract]