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56 Possible Causes for 2, 4 BETA GALACTOSYLTRANSFERASE, GLYCOPROTEIN

  • Ehlers-Danlos Syndrome Type Progeroid

    Acronym EDSSPD2 Synonyms EDSP2 Ehlers-Danlos syndrome, progeroid type, 2 Keywords Any medical or genetic information present in this entry is provided for research, educational[uniprot.org] beta-galactosyltransferase deficiency Definition: An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion[zfin.org] Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose.[genecards.org]

  • Musculocontractural Ehlers-Danlos Syndrome Type 2

    Syndrome, Musculocontractural Type, 2 is DSE (Dermatan Sulfate Epimerase).[malacards.org] I Deficiency PDS, Defective Biosynthesis Of Proteodermatan Sulfate, Defective Biosynthesis Of XGPT Deficiency Xylosylprotein 4-Beta-Galactosyltransferase Deficiency EDSSLA[ukgtn.nhs.uk] Tenascin-X is an extracellular matrix glycoprotein, thought to function in matrix maturation during wound healing[ 7 ] and became the first EDS gene that does not encode a[wjgnet.com]

  • Ehlers-Danlos Syndrome Type 2

    Prognosis - Ehlers-Danlos syndrome type 2 Not supplied. Treatment - Ehlers-Danlos syndrome type 2 Not supplied. Resources - Ehlers-Danlos syndrome type 2 Not supplied.[checkorphan.org] beta-galactosyltransferase deficiency Definition: An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion[zfin.org] The dermal extracellular matrix is mainly composed of collagen and elastic fibres admixed with amorphous glycoproteins and glycosamimoglycans covalently linked to polypeptides[omicsonline.org]

  • Brittle Cornea Syndrome 2

    Name Brittle Cornea Syndrome 2 Synonyms - Classification developmental, eye, genetic, skin, systemic and rheumatological Phenotypes Autosomal recessive inheritance ; Blue[mousephenotype.org] I Deficiency PDS, Defective Biosynthesis Of Proteodermatan Sulfate, Defective Biosynthesis Of XGPT Deficiency Xylosylprotein 4-Beta-Galactosyltransferase Deficiency EDSSLA[ukgtn.nhs.uk] SPARC is a glycoprotein secreted by osteoblasts during bone formation.[omicsonline.org]

  • Osteogenesis Imperfecta Type 2

    […] and its accompanying x-ray) Sections of femur and spine from a normal and type 2 body, for comparison A very young fetus with type 2.[writerightmel.wordpress.com] -1,3-galactosyltransferase 6 new data last added: 17 January 2017 View new B3GALT6 data and updates B4GALT7 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 new[le.ac.uk] Type XV OI is an autosomal recessive form that is due to mutation in the gene ( WNT1 ) encoding the secreted glycoprotein growth factor called Wnt1. back to the Inborn Errors[themedicalbiochemistrypage.org]

  • Ectopia Lentis

    An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4).[malacards.org] ASPH aspartate beta-hydroxylase B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 BCOR BCL6 corepressor C12ORF57 chromosome 12 open reading frame 57 CBS[amp.pharm.mssm.edu] ADAMTSL4 is a secreted glycoprotein that localizes to cells and fibrillar extracellular matrix structures of the eye.[preventiongenetics.com]

  • FGFR2-Related Bent Bone Dysplasia

    Reardon W et. al. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. [ ] 30.[moldiag.com] I Deficiency PDS, Defective Biosynthesis Of Proteodermatan Sulfate, Defective Biosynthesis Of XGPT Deficiency Xylosylprotein 4-Beta-Galactosyltransferase Deficiency EDSSLA[ukgtn.nhs.uk] […] organism-specific biosystem (from REACTOME) Signaling by EGFR, organism-specific biosystem The epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein[ncbi.nlm.nih.gov]

  • Ehlers Danlos Syndrome

    Epub 2016 Feb 2.[ncbi.nlm.nih.gov] beta-galactosyltransferase B4GALT7 Brittle cornea AR Heterogeneous ZNF469* Cardiac valvular AR Type I procollagen COL1A2 Beasley-Cohen AR Unknown Unknown Tenascin-X deficiency[clinicaladvisor.com] Macromolecular proteins include the glycoproteins of the basement membrane (type IV collagen, laminin, entactin) and the ECM (fibronectin, tenascin).[emedicine.medscape.com]

  • Brittle Cornea Syndrome

    Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):346.[disorders.eyes.arizona.edu] I Deficiency PDS, Defective Biosynthesis Of Proteodermatan Sulfate, Defective Biosynthesis Of XGPT Deficiency Xylosylprotein 4-Beta-Galactosyltransferase Deficiency EDSSLA[ukgtn.nhs.uk] Acid mucopolysaccharide and glycoprotein in the human cornea in relation to age and keratoconus .[nature.com]

  • NADH Cytochrome B5 Reductase Deficiency

    Hum Reprod Update 9:163–174 PubMed CrossRef Google Scholar 2. Rai R, Regan L (2006) Recurrent miscarriage. Lancet 368:601–611 PubMed CrossRef Google Scholar 3.[link.springer.com] 4, 59kDa 0.172291 A1BG alpha-1-B glycoprotein 0.172038 SYCN syncollin 0.170299 LBR lamin B receptor 0.16933 KAT6A K(lysine) acetyltransferase 6A 0.168148 GYPE glycophorin[amp.pharm.mssm.edu] NADH-cytochrome b5 reductase Colonization Apoptosis Tumors RNA helicase L-Lactate Dehydrogenase - metabolism Neoplasm Transplantation RNA, Small Interfering - genetics Membrane Glycoproteins[query.library.utoronto.ca]