B4GALT7
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Beta-1,4-galactosyltransferase 7 also known as galactosyltransferase I is an enzyme that in humans is encoded by the B4GALT7 gene.[5][6][7] Galactosyltransferase I catalyzes the synthesis of the glycosaminoglycan-protein linkage in proteoglycans.[8] Proteoglycans in turn are structural components of the extracellular matrix that is found between cells in connective tissues.
Function
Galactosyltransferase I is one of seven β-1,4-
proteoglycans. Manganese is required as a cofactor. This enzyme differs from the other six beta4GalTs because it lacks the conserved β4GalT1-β4GalT6 Cys residues and it is located in cis-Golgi instead of trans-Golgi.[7]
Clinical significance
Mutations in the B4GALT7 gene that result in a defective galactosyltransferase I enzyme with reduced or absent activity are associated with Spondylodysplastic, formerly progeroid type
Ehlers-Danlos syndrome may be considered a congenital disorder of glycosylation
(CDG), according to the new CDG nomenclature.
Mutations in B4GALT7 cause Larsen syndrome.[13]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000027847 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021504 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 10438455.
- ^ PMID 10473568.
- ^ a b "Entrez Gene: B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)".
- ^ PMID 10506123.
- PMID 2106134.
- PMID 12417421.
- S2CID 10165577.
- PMID 18158310.
- PMID 24755949.
External links
- Human B4GALT7 genome location and B4GALT7 gene details page in the UCSC Genome Browser.
- PDBe-KB provides an overview of all the structure information available in the PDB for Human Beta-1,4-galactosyltransferase 7
Further reading
- Amado M, Almeida R, Schwientek T, Clausen H (December 1999). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochimica et Biophysica Acta (BBA) - General Subjects. 1473 (1): 35–53. PMID 10580128.
- Seidler DG, Faiyaz-Ul-Haque M, Hansen U, Yip GW, Zaidi SH, Teebi AS, et al. (July 2006). "Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)". Journal of Molecular Medicine. 84 (7): 583–94. S2CID 10165577.
- Gulberti S, Lattard V, Fondeur M, Jacquinet JC, Mulliert G, Netter P, et al. (January 2005). "Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans". The Journal of Biological Chemistry. 280 (2): 1417–25. PMID 15522873.
- Kuroiwa A, Matsuda Y, Okajima T, Furukawa K (2000). "Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization". Cytogenetics and Cell Genetics. 89 (1–2): 8–9. S2CID 33696165.
- Kresse H, Rosthøj S, Quentin E, Hollmann J, Glössl J, Okada S, Tønnesen T (September 1987). "Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid". American Journal of Human Genetics. 41 (3): 436–53. PMID 3631078.
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