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The protein encoded by ALG13 is a subunit of a bipartite UDP-N-acetylglucosamine transferase.
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ALG13-is2 could be an important modifier of renal filtration defects
A female patient heterozygous for ALG13 Asn107Ser variant presented with infantile spasms, developmental delay, and dysmorphic features. The patient showed normal pattern of glycosylated transferrin (zeige Tf Proteine) and random pattern of X-inactivation.
We report on a novel missense variant in the ALG13 gene in a nonconsanguineous Arab family that co-segregates with nonsyndromic intellectual disability.
ALG13 and ALG14 (zeige ALG14 Proteine) form a functional endoplasmic reticulum UDP-N-acetylglucosamine (zeige MGAT4B Proteine) transferase
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene.
, UDP-N-acetylglucosamine transferase subunit ALG13 homolog
, asparagine-linked glycosylation 13 homolog
, glycosyltransferase 28 domain-containing protein 1
, hematopoietic stem/progenitor cells protein MDS031
, tudor domain containing 13
, glycosyltransferase 28 domain containing 1