RecName: Full=GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransfe - Protein

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ALG11-CDG syndrome: Expanding the phenotype. [Am J Med Genet A. 2019]
ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd. Am J Med Genet A. 2019 Mar; 179(3):498-502. Epub 2019 Jan 24.
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. [Hum Mutat. 2012]
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, et al. Hum Mutat. 2012 Mar; 33(3):485-7. Epub 2012 Jan 31.
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. [Hum Mol Genet. 2010]
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
Rind N, Schmeiser V, Thiel C, Absmanner B, Lübbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Körner C. Hum Mol Genet. 2010 Apr 15; 19(8):1413-24. Epub 2010 Jan 15.

RefSeq genomic sequence
See the genomic reference sequence for the ALG11 gene (NG_028038.2).
RefSeq protein
See the reference protein sequence for GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (NP_001004127.2).

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Q2TAA5 [Domain Mapping of Disease Mut...]
Q2TAA5
Domain Mapping of Disease Mutations
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RecName: Full=GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; AltN...
RecName: Full=GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 11 homolog; AltName: Full=Glycolipid 2-alpha-mannosyltransferase
gi|156631015|sp|Q2TAA5.2|ALG11_HUMA

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