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Results for the Protein: P61457
47606444

PHS_HUMAN RecName: Full=Pterin-4-alpha-carbinolamine dehydratase; Short=PHS; AltName: Full=4-alpha-hydroxy-tetrahydropterin dehydratase; AltName: Full=Dimerization cofactor of hepatocyte nuclear factor 1-alpha; Short=DCoH; Short=Dimerization cofactor of HNF1; AltName: Full=Phenylalanine hydroxylase-stimulating protein; AltName: Full=Pterin carbinolamine dehydratase; Short=PCD

Known Diseases associated with this Protein:
  HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
  HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (HPABH4D)
8
1
5
0
4
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Default View:

Pterin_4a - pfam01329
COG2154 - COG2154
PCD_DCoH_subfamily_b - cd00914
PCD_DCoH_subfamily_a - cd00913
PCD_DCoH - cd00488


Swiss-Prot Protein: P61457
Identical to: NP_000272
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PCD_DCoHcd004881.9e-402499
PCD_DCoH_subfamily_acd009131.2e-092499
PCD_DCoH_subfamily_bcd009145.4e-562499
COG2154COG21542e-363104
Pterin_4apfam013293.1e-463101

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005529Diseasep.ARG88GLNHyperphenylalaninemia, BH4-deficient, D (HPABH4D)
Swiss-ProtVAR_005528Diseasep.CYS82ARGHyperphenylalaninemia, BH4-deficient, D (HPABH4D)
Swiss-ProtVAR_005530Diseasep.GLU97LYSHyperphenylalaninemia, BH4-deficient, D (HPABH4D)
Swiss-ProtVAR_005527Polymorphismp.THR79ILEN/A
OMIM126090.0002 Diseasep.CYS82ARGHYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
OMIM126090.0005 Diseasep.GLN97TERHYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
OMIM126090.0004 Diseasep.GLU86TERHYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
OMIM126090.0001 Diseasep.GLU87TERHYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
OMIM126090.0003 Diseasep.THR78ILEHYPERPHENYLALANINEMIA, BH4-DEFICIENT, D



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