RecName: Full=Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltrans - Protein

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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. [Am J Med Genet A. 2021]
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, et al. Am J Med Genet A. 2021 Nov; 185(11):3494-3501. Epub 2021 Sep 1.
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. [Brain Dev. 2021]
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. Brain Dev. 2021 Oct; 43(9):945-951. Epub 2021 Jun 3.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect. [Glycoconj J. 2019]
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, et al. Glycoconj J. 2019 Dec; 36(6):461-472. Epub 2019 Sep 16.

RefSeq genomic sequence
See the genomic reference sequence for the ALG12 gene (NG_008927.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the ALG12 gene.

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Q9BV10 [Domain Mapping of Disease Mut...]
Q9BV10
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; Al...
RecName: Full=Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 12 homolog; Short=hALG12; AltName: Full=Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase; AltName: Full=Mannosyltransferase ALG12 homolog; AltName: Full=Membrane protein SB87
gi|45476971|sp|Q9BV10.1|ALG12_HUMAN

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