B3GALTL Antibody

1. Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL). PMID: 27049305
2. POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. PMID: 25544610
3. 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. PMID: 23889335
4. a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome PMID: 23954224
5. 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 PMID: 22759511
6. Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL. PMID: 21671750
7. 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. PMID: 21067481
8. Novel B3GALTL mutation in Peters-plus Syndrome PMID: 19796186
9. B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs PMID: 12943678
10. 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 domain. PMID: 16899492
11. 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. PMID: 16909395
12. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.( PMID: 18199743
13. two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome PMID: 18798333

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HGNC: 20207

OMIM: 261540

KEGG: hsa:145173

STRING: 9606.ENSP00000343002

UniGene: Hs.13205