RecName: Full=Dolichol-phosphate mannosyltransferase subunit 3; AltNam - Protein

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A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. [Clin Genet. 2022]
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Nagy S, Lau T, Alavi S, Karimiani EG, Vallian J, Ng BG, Noroozi Asl S, Akhondian J, Bahreini A, Yaghini O, et al. Clin Genet. 2022 Dec; 102(6):530-536. Epub 2022 Aug 19.
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. [Clin Genet. 2019]
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.
Fu J, Ma M, Song J, Pang M, Yang L, Li G, Zhang J. Clin Genet. 2019 Dec; 96(6):590-591. Epub 2019 Aug 30.
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. [Neuromuscul Disord. 2019]
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, et al. Neuromuscul Disord. 2019 Jul; 29(7):497-502. Epub 2019 May 9.

RefSeq genomic sequence
See the genomic reference sequence for the DPM3 gene (NG_012871.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the DPM3 gene.

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Q9P2X0 [Domain Mapping of Disease Mut...]
Q9P2X0
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Dolichol-phosphate mannosyltransferase subunit 3; AltName: Full=Do...
RecName: Full=Dolichol-phosphate mannosyltransferase subunit 3; AltName: Full=Dolichol-phosphate mannose synthase subunit 3; Short=DPM synthase subunit 3; AltName: Full=Dolichyl-phosphate beta-D-mannosyltransferase subunit 3; AltName: Full=Mannose-P-dolichol synthase subunit 3; Short=MPD synthase subunit 3; AltName: Full=Prostin-1
gi|125987822|sp|Q9P2X0.2|DPM3_HUMAN

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