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ALG8 encodes a member of the ALG6/ALG8 glucosyltransferase family.
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used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH (zeige PRKCSH Proteine) and SEC63 (zeige SEC63 Proteine), to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB (zeige GANAB Proteine), and SEC61B (zeige SEC61B Proteine). Similarly to PRKCSH (zeige PRKCSH Proteine) and SEC63 (zeige SEC63 Proteine), these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
In ALG8-CDG, isoelectric focusing of transferrin (zeige Tf Proteine) in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions
We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-disorder of glycosylation with a special focus on their skin signs.
Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8
ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih.
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified.
, 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
, probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase