Sequence of B3GT6_HUMAN

galactosylxylosylprotein 3-beta-galactosyltransferase

Q96L58

329

37138

269144

Bai X.,Zhou D.,Brown J.R.,Crawford B.E.,Hennet T.,Esko J.D.

Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).

J. Biol. Chem.

276

48189-48195

2001

269145

Gregory S.G.,Barlow K.F.,McLay K.E.,Kaul R.,Swarbreck D.,Dunham A.,Scott C.E.,Howe K.L.,Woodfine K.,Spencer C.C.A.,Jones M.C.,Gillson C.,Searle S.,Zhou Y.,Kokocinski F.,McDonald L.,Evans R.,Phillips K.,Atkinson A.,Cooper R.,Jones C.,Hall R.E.,Andrews T.D.,Lloyd C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Anderson F.,Andrew R.W.,Ashwell R.I.S.,Aubin K.,Babbage A.K.,Bagguley C.L.,Bailey J.,Beasley H.,Bethel G.,Bird C.P.,Bray-Allen S.,Brown J.Y.,Brown A.J.,Buckley D.,Burton J.,Bye J.,Carder C.,Chapman J.C.,Clark S.Y.,Clarke G.,Clee C.,Cobley V.,Collier R.E.,Corby N.,Coville G.J.,Davies J.,Deadman R.,Dunn M.,Earthrowl M.,Ellington A.G.,Errington H.,Frankish A.,Frankland J.,French L.,Garner P.,Garnett J.,Gay L.,Ghori M.R.J.,Gibson R.,Gilby L.M.,Gillett W.,Glithero R.J.,Grafham D.V.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Hammond S.,Harrison E.S.I.,Hart E.,Haugen E.,Heath P.D.,Holmes S.,Holt K.,Howden P.J.,Hunt A.R.,Hunt S.E.,Hunter G.,Isherwood J.,James R.,Johnson C.,Johnson D.,Joy A.,Kay M.,Kershaw J.K.,Kibukawa M.,Kimberley A.M.,King A.,Knights A.J.,Lad H.,Laird G.,Lawlor S.,Leongamornlert D.A.,Lloyd D.M.,Loveland J.,Lovell J.,Lush M.J.,Lyne R.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,Matthews N.S.W.,McLaren S.,Milne S.,Mistry S.,Moore M.J.F.,Nickerson T.,O'Dell C.N.,Oliver K.,Palmeiri A.,Palmer S.A.,Parker A.,Patel D.,Pearce A.V.,Peck A.I.,Pelan S.,Phelps K.,Phillimore B.J.,Plumb R.,Rajan J.,Raymond C.,Rouse G.,Saenphimmachak C.,Sehra H.K.,Sheridan E.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.,Steward C.,Subramanian S.,Sycamore N.,Tracey A.,Tromans A.,Van Helmond Z.,Wall M.,Wallis J.M.,White S.,Whitehead S.L.,Wilkinson J.E.,Willey D.L.,Williams H.,Wilming L.,Wray P.W.,Wu Z.,Coulson A.,Vaudin M.,Sulston J.E.,Durbin R.M.,Hubbard T.,Wooster R.,Dunham I.,Carter N.P.,McVean G.,Ross M.T.,Harrow J.,Olson M.V.,Beck S.,Rogers J.,Bentley D.R.

The DNA sequence and biological annotation of human chromosome 1.

Nature

441

315-321

2006

269146

Zhou D.,Dinter A.,Gutierrez Gallego R.,Kamerling J.P.,Vliegenthart J.F.G.,Berger E.G.,Hennet T.

A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.

Proc. Natl. Acad. Sci. U.S.A.

96

406-411

1999

269148

Nakajima M.,Mizumoto S.,Miyake N.,Kogawa R.,Iida A.,Ito H.,Kitoh H.,Hirayama A.,Mitsubuchi H.,Miyazaki O.,Kosaki R.,Horikawa R.,Lai A.,Mendoza-Londono R.,Dupuis L.,Chitayat D.,Howard A.,Leal G.F.,Cavalcanti D.,Tsurusaki Y.,Saitsu H.,Watanabe S.,Lausch E.,Unger S.,Bonafe L.,Ohashi H.,Superti-Furga A.,Matsumoto N.,Sugahara K.,Nishimura G.,Ikegawa S.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Am. J. Hum. Genet.

92

927-934

2013

269149

Malfait F.,Kariminejad A.,Van Damme T.,Gauche C.,Syx D.,Merhi-Soussi F.,Gulberti S.,Symoens S.,Vanhauwaert S.,Willaert A.,Bozorgmehr B.,Kariminejad M.H.,Ebrahimiadib N.,Hausser I.,Huysseune A.,Fournel-Gigleux S.,De Paepe A.

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations causes a pleiotropic Ehlers-Danlos syndrome-like connective tissue disorder.

Am. J. Hum. Genet.

92

935-945

2013

269150

Sellars E.A.,Bosanko K.A.,Lepard T.,Garnica A.,Schaefer G.B.

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.

Semin. Pediatr. Neurol.

21

84-87

2014

269151

Ben-Mahmoud A.,Ben-Salem S.,Al-Sorkhy M.,John A.,Ali B.R.,Al-Gazali L.

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta3GalT6-pathy mutations.

Clin. Genet.

93

1148-1158

2018

269152

Vorster A.A.,Beighton P.,Ramesar R.S.

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.

Clin. Genet.

87

492-495

2015

269153

Ritelli M.,Chiarelli N.,Zoppi N.,Dordoni C.,Quinzani S.,Traversa M.,Venturini M.,Calzavara-Pinton P.,Colombi M.

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

Mol. Genet. Metab. Rep.

2

1-15

2015

269154

Alazami A.M.,Al-Qattan S.M.,Faqeih E.,Alhashem A.,Alshammari M.,Alzahrani F.,Al-Dosari M.S.,Patel N.,Alsagheir A.,Binabbas B.,Alzaidan H.,Alsiddiky A.,Alharbi N.,Alfadhel M.,Kentab A.,Daza R.M.,Kircher M.,Shendure J.,Hashem M.,Alshahrani S.,Rahbeeni Z.,Khalifa O.,Shaheen R.,Alkuraya F.S.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Hum. Genet.

135

525-540

2016

269155

Maddirevula S.,Alsahli S.,Alhabeeb L.,Patel N.,Alzahrani F.,Shamseldin H.E.,Anazi S.,Ewida N.,Alsaif H.S.,Mohamed J.Y.,Alazami A.M.,Ibrahim N.,Abdulwahab F.,Hashem M.,Abouelhoda M.,Monies D.,Al Tassan N.,Alshammari M.,Alsagheir A.,Seidahmed M.Z.,Sogati S.,Aglan M.S.,Hamad M.H.,Salih M.A.,Hamed A.A.,Alhashmi N.,Nabil A.,Alfadli F.,Abdel-Salam G.M.H.,Alkuraya H.,Peitee W.O.,Keng W.T.,Qasem A.,Mushiba A.M.,Zaki M.S.,Fassad M.R.,Alfadhel M.,Alexander S.,Sabr Y.,Temtamy S.,Ekbote A.V.,Ismail S.,Hosny G.A.,Otaify G.A.,Amr K.,Al Tala S.,Khan A.O.,Rizk T.,Alaqeel A.,Alsiddiky A.,Singh A.,Kapoor S.,Alhashem A.,Faqeih E.,Shaheen R.,Alkuraya F.S.

Expanding the phenome and variome of skeletal dysplasia.

Genet. Med.

20

1609-1616

2018

269156

Van Damme T.,Pang X.,Guillemyn B.,Gulberti S.,Syx D.,De Rycke R.,Kaye O.,de Die-Smulders C.E.M.,Pfundt R.,Kariminejad A.,Nampoothiri S.,Pierquin G.,Bulk S.,Larson A.A.,Chatfield K.C.,Simon M.,Legrand A.,Gerard M.,Symoens S.,Fournel-Gigleux S.,Malfait F.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Hum. Mol. Genet.

27

3475-3487

2018