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The protein encoded by B3GALTL is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. Zusätzlich bieten wir Ihnen B3GALTL Kits (11) und B3GALTL Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
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POFUT2 (zeige POFUT2 Antikörper) and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation.
Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation.
a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome
A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene
Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL.
The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition.
Novel B3GALTL mutation in Peters-plus Syndrome
B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs
We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR (zeige CFL1 Antikörper) domain.
Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome.
The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).
, beta 3-glycosyltransferase-like
, UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like