RecName: Full=Dolichol phosphate-mannose biosynthesis regulatory prote - Protein

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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. [Mol Genet Metab. 2021]
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, et al. Mol Genet Metab. 2021 Jan; 132(1):27-37. Epub 2020 Oct 17.
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. [Ann Neurol. 2012]
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, et al. Ann Neurol. 2012 Oct; 72(4):550-8.
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. [Neurology. 2009]
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E. Neurology. 2009 Nov 10; 73(19):1599-601.

RefSeq genomic sequence
See the genomic reference sequence for the DPM2 gene (NG_032927.1).

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O94777 [Domain Mapping of Disease Mut...]
O94777
Domain Mapping of Disease Mutations
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RecName: Full=Dolichol phosphate-mannose biosynthesis regulatory protein; AltNam...
RecName: Full=Dolichol phosphate-mannose biosynthesis regulatory protein; AltName: Full=Dolichol-phosphate mannose synthase subunit 2; Short=DPM synthase subunit 2
gi|8134407|sp|O94777.3|DPM2_HUMAN

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