Sequence of ALG6_HUMAN

dolichyl-P-Glc:Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase

Q9Y672

507

58121

767230

Imbach T.,Burda P.,Kuhnert P.,Wevers R.A.,Aebi M.,Berger E.G.,Hennet T.

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

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

96

6982-6987

1999

767232

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

767233

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

767235

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

767236

Westphal V.,Murch S.,Kim S.,Srikrishna G.,Winchester B.,Day R.,Freeze H.H.

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Am. J. Pathol.

157

1917-1925

2000

767237

Imbach T.,Gruenewald S.,Schenk B.,Burda P.,Schollen E.,Wevers R.A.,Jaeken J.,de Klerk J.B.C.,Berger E.G.,Matthijs G.,Aebi M.,Hennet T.

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Hum. Genet.

106

538-545

2000

767238

Westphal V.,Schottstaedt C.,Marquardt T.,Freeze H.H.

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

Mol. Genet. Metab.

70

219-223

2000

767239

Vuillaumier-Barrot S.,Le Bizec C.,Durand G.,Seta N.

The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.

J. Hum. Genet.

46

547-548

2001

767240

de Lonlay P.,Seta N.,Barrot S.,Chabrol B.,Drouin V.,Gabriel B.M.,Journel H.,Kretz M.,Laurent J.,Le Merrer M.,Leroy A.,Pedespan D.,Sarda P.,Villeneuve N.,Schmitz J.,van Schaftingen E.,Matthijs G.,Jaeken J.,Koerner C.,Munnich A.,Saudubray J.-M.,Cormier-Daire V.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

J. Med. Genet.

38

14-19

2001

767241

Schollen E.,Martens K.,Geuzens E.,Matthijs G.

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Eur. J. Hum. Genet.

10

643-648

2002

767242

Westphal V.,Kjaergaard S.,Schollen E.,Martens K.,Gruenewald S.,Schwartz M.,Matthijs G.,Freeze H.H.

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Hum. Mol. Genet.

11

599-604

2002

767243

Westphal V.,Xiao M.,Kwok P.-Y.,Freeze H.H.

Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic.

Hum. Mutat.

22

420-421

2003