Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex (By similarity). Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins ...[+]

Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex (By similarity). Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids (By similarity). Can catalyze the reverse reaction in vitro (By similarity). Together with GMPPA regulates GDP-alpha-D-mannose levels (By similarity).; Mannose-1-phosphate guanylyltransferase catalytic subunit beta [-]

             autosomal recessive limb-girdle muscular dystrophy type 2T
             muscular dystrophy-dystroglycanopathy type B14

          MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEV
          MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD