Results for the protein: Q9NQX3

Results for the Protein: Q9NQX3

13431554

10243

GPHN

NCBI, UniProt

GEPH_HUMAN RecName: Full=Gephyrin; Includes: RecName: Full=Molybdopterin adenylyltransferase; Short=MPT adenylyltransferase; AltName: Full=Domain G; Includes: RecName: Full=Molybdopterin molybdenumtransferase; Short=MPT Mo-transferase; AltName: Full=Domain E

Known Diseases associated with this Protein:
  MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C
  MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (MOCODC)
  VARIANT OF UNKNOWN SIGNIFICANCE

3

1

2

0

2

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