Sequence of ALG12_HUMAN

dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase

Q9BV10

488

54655

896903

Chantret I.,Dupre T.,Delenda C.,Bucher S.,Dancourt J.,Barnier A.,Charollais A.,Heron D.,Bader-Meunier B.,Danos O.,Seta N.,Durand G.,Oriol R.,Codogno P.,Moore S.E.H.

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

J. Biol. Chem.

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2002

896905

Wan D.,Gong Y.,Qin W.,Zhang P.,Li J.,Wei L.,Zhou X.,Li H.,Qiu X.,Zhong F.,He L.,Yu J.,Yao G.,Jiang H.,Qian L.,Yu Y.,Shu H.,Chen X.,Xu H.,Guo M.,Pan Z.,Chen Y.,Ge C.,Yang S.,Gu J.

Large-scale cDNA transfection screening for genes related to cancer development and progression.

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

101

15724-15729

2004

896906

Collins J.E.,Wright C.L.,Edwards C.A.,Davis M.P.,Grinham J.A.,Cole C.G.,Goward M.E.,Aguado B.,Mallya M.,Mokrab Y.,Huckle E.J.,Beare D.M.,Dunham I.

A genome annotation-driven approach to cloning the human ORFeome.

Genome Biol.

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0-0

2004

896907

Dunham I.,Hunt A.R.,Collins J.E.,Bruskiewich R.,Beare D.M.,Clamp M.,Smink L.J.,Ainscough R.,Almeida J.P.,Babbage A.K.,Bagguley C.,Bailey J.,Barlow K.F.,Bates K.N.,Beasley O.P.,Bird C.P.,Blakey S.E.,Bridgeman A.M.,Buck D.,Burgess J.,Burrill W.D.,Burton J.,Carder C.,Carter N.P.,Chen Y.,Clark G.,Clegg S.M.,Cobley V.E.,Cole C.G.,Collier R.E.,Connor R.,Conroy D.,Corby N.R.,Coville G.J.,Cox A.V.,Davis J.,Dawson E.,Dhami P.D.,Dockree C.,Dodsworth S.J.,Durbin R.M.,Ellington A.G.,Evans K.L.,Fey J.M.,Fleming K.,French L.,Garner A.A.,Gilbert J.G.R.,Goward M.E.,Grafham D.V.,Griffiths M.N.D.,Hall C.,Hall R.E.,Hall-Tamlyn G.,Heathcott R.W.,Ho S.,Holmes S.,Hunt S.E.,Jones M.C.,Kershaw J.,Kimberley A.M.,King A.,Laird G.K.,Langford C.F.,Leversha M.A.,Lloyd C.,Lloyd D.M.,Martyn I.D.,Mashreghi-Mohammadi M.,Matthews L.H.,Mccann O.T.,Mcclay J.,Mclaren S.,McMurray A.A.,Milne S.A.,Mortimore B.J.,Odell C.N.,Pavitt R.,Pearce A.V.,Pearson D.,Phillimore B.J.C.T.,Phillips S.H.,Plumb R.W.,Ramsay H.,Ramsey Y.,Rogers L.,Ross M.T.,Scott C.E.,Sehra H.K.,Skuce C.D.,Smalley S.,Smith M.L.,Soderlund C.,Spragon L.,Steward C.A.,Sulston J.E.,Swann R.M.,Vaudin M.,Wall M.,Wallis J.M.,Whiteley M.N.,Willey D.L.,Williams L.,Williams S.A.,Williamson H.,Wilmer T.E.,Wilming L.,Wright C.L.,Hubbard T.,Bentley D.R.,Beck S.,Rogers J.,Shimizu N.,Minoshima S.,Kawasaki K.,Sasaki T.,Asakawa S.,Kudoh J.,Shintani A.,Shibuya K.,Yoshizaki Y.,Aoki N.,Mitsuyama S.,Roe B.A.,Chen F.,Chu L.,Crabtree J.,Deschamps S.,Do A.,Do T.,Dorman A.,Fang F.,Fu Y.,Hu P.,Hua A.,Kenton S.,Lai H.,Lao H.I.,Lewis J.,Lewis S.,Lin S.-P.,Loh P.,Malaj E.,Nguyen T.,Pan H.,Phan S.,Qi S.,Qian Y.,Ray L.,Ren Q.,Shaull S.,Sloan D.,Song L.,Wang Q.,Wang Y.,Wang Z.,White J.,Willingham D.,Wu H.,Yao Z.,Zhan M.,Zhang G.,Chissoe S.,Murray J.,Miller N.,Minx P.,Fulton R.,Johnson D.,Bemis G.,Bentley D.,Bradshaw H.,Bourne S.,Cordes M.,Du Z.,Fulton L.,Goela D.,Graves T.,Hawkins J.,Hinds K.,Kemp K.,Latreille P.,Layman D.,Ozersky P.,Rohlfing T.,Scheet P.,Walker C.,Wamsley A.,Wohldmann P.,Pepin K.,Nelson J.,Korf I.,Bedell J.A.,Hillier L.W.,Mardis E.,Waterston R.,Wilson R.,Emanuel B.S.,Shaikh T.,Kurahashi H.,Saitta S.,Budarf M.L.,McDermid H.E.,Johnson A.,Wong A.C.C.,Morrow B.E.,Edelmann L.,Kim U.J.,Shizuya H.,Simon M.I.,Dumanski J.P.,Peyrard M.,Kedra D.,Seroussi E.,Fransson I.,Tapia I.,Bruder C.E.,O'Brien K.P.,Wilkinson P.,Bodenteich A.,Hartman K.,Hu X.,Khan A.S.,Lane L.,Tilahun Y.,Wright H.

The DNA sequence of human chromosome 22.

Nature

402

489-495

1999

896909

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

Genome Res.

14

2121-2127

2004

896910

Grubenmann C.E.,Frank C.G.,Kjaergaard S.,Berger E.G.,Aebi M.,Hennet T.

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig.

Hum. Mol. Genet.

11

2331-2339

2002

896911

Thiel C.,Schwarz M.,Hasilik M.,Grieben U.,Hanefeld F.,Lehle L.,von Figura K.,Koerner C.

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Biochem. J.

367

195-201

2002

896912

Zdebska E.,Bader-Meunier B.,Schischmanoff P.-O.,Dupre T.,Seta N.,Tchernia G.,Koscielak J.,Delaunay J.

Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.

Pediatr. Res.

54

224-229

2003

896913

Kranz C.,Basinger A.A.,Guecsavas-Calikoglu M.,Sun L.,Powell C.M.,Henderson F.W.,Aylsworth A.S.,Freeze H.H.

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

Am. J. Med. Genet. A

143

1371-1378

2007