Results for the protein: Q9H3H5

Results for the Protein: Q9H3H5

18202943

1798

DPAGT1

NCBI, UniProt

GPT_HUMAN RecName: Full=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase; AltName: Full=GlcNAc-1-P transferase; Short=G1PT; Short=GPT; AltName: Full=N-acetylglucosamine-1-phosphate transferase

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1J (CDG1J)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ
  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES, 2 (CMSTA2)

16

2

9

1

8

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