Asparagine-Linked Glycosylation 8, alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) Proteine (ALG8)

ALG8 encodes a member of the ALG6/ALG8 glucosyltransferase family.

alle Proteine anzeigen Gen GeneID UniProt
Human ALG8 ALG8 79053 Q9BVK2
Ratte ALG8 ALG8 293129  
Maus ALG8 ALG8 381903 Q6P8H8
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Insektenzellen Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Anmelden zum Anzeigen 50 bis 55 Tage
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Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
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Weitere Proteine zu Asparagine-Linked Glycosylation 8, alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) (ALG8) Interaktionspartnern

Human Asparagine-Linked Glycosylation 8, alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) (ALG8) Interaktionspartner

  1. 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.

  2. 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

  3. 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.

  4. Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8

  5. ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

  6. ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih.

ALG8 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit ALG8

  • ALG8, alpha-1,3-glucosyltransferase (ALG8)
  • ALG8, alpha-1,3-glucosyltransferase (Alg8)
  • asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase) (Alg8)
  • AI447372 Protein
  • CDG1H Protein
  • Gm1089 Protein

Bezeichner auf Proteinebene für ALG8

HUSSY-02 , 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 , probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

GENE ID SPEZIES
79053 Homo sapiens
293129 Rattus norvegicus
381903 Mus musculus
538731 Bos taurus
428097 Gallus gallus
476793 Canis lupus familiaris
100511030 Sus scrofa
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