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Results for the Protein: P51857
1703007

AK1D1_HUMAN RecName: Full=3-oxo-5-beta-steroid 4-dehydrogenase; AltName: Full=Aldo-keto reductase family 1 member D1; AltName: Full=Delta(4)-3-ketosteroid 5-beta-reductase; AltName: Full=Delta(4)-3-oxosteroid 5-beta-reductase

Known Diseases associated with this Protein:
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
  CONGENITAL BILE ACID SYNTHESIS DEFECT 2 (CBAS2)
8
0
4
0
4
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Default View:

ARA1 - COG0656
Tas - COG0667
Aldo_ket_red - cd06660


Swiss-Prot Protein: P51857
Identical to: NP_005980
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARA1COG06561.2e-1115322
TasCOG06674.5e-117310
Aldo_ket_redcd066607.5e-889302

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_044431Diseasep.ARG261CYSCongenital bile acid synthesis defect 2 (CBAS2)
Swiss-ProtVAR_033007Diseasep.LEU106PHECongenital bile acid synthesis defect 2 (CBAS2)
Swiss-ProtVAR_044430Diseasep.PRO133ARGCongenital bile acid synthesis defect 2 (CBAS2)
Swiss-ProtVAR_033008Diseasep.PRO198LEUCongenital bile acid synthesis defect 2 (CBAS2)
OMIM604741.0005 Diseasep.ARG261CYSBILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
OMIM604741.0003 Diseasep.LEU106PHEBILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
OMIM604741.0004 Diseasep.PRO133ARGBILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
OMIM604741.0001 Diseasep.PRO198LEUBILE ACID SYNTHESIS DEFECT, CONGENITAL, 2



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