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Results for the Protein: Q07973
19862747

CP24A_HUMAN RecName: Full=1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; Short=24-OHase; Short=Vitamin D(3) 24-hydroxylase; AltName: Full=Cytochrome P450 24A1; AltName: Full=Cytochrome P450-CC24; Flags: Precursor

Known Diseases associated with this Protein:
  HYPERCALCEMIA INFANTILE (HCAI)
  HYPERCALCEMIA, INFANTILE
9
2
5
1
5
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Default View:

CypX - COG2124
p450 - pfam00067


Swiss-Prot Protein: Q07973
Identical to: NP_000773
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
p450pfam000676.5e-10358513

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048464Polymorphismp.ARG157GLNN/A
Swiss-ProtVAR_066409Diseasep.ARG159GLNHypercalcemia infantile (HCAI)
Swiss-ProtVAR_066411Diseasep.ARG396TRPHypercalcemia infantile (HCAI)
Swiss-ProtVAR_066410Diseasep.GLU322LYSHypercalcemia infantile (HCAI)
Swiss-ProtVAR_048466Diseasep.LEU409SERHypercalcemia infantile (HCAI)
dbSNPrs6022990 Polymorphismp.MET374THRN/A
OMIM126065.0004 Diseasep.ARG159GLNHYPERCALCEMIA, INFANTILE
OMIM126065.0005 Diseasep.ARG396TRPHYPERCALCEMIA, INFANTILE
OMIM126065.0007 Diseasep.GLU322LYSHYPERCALCEMIA, INFANTILE
OMIM126065.0003 Diseasep.GLU151TERHYPERCALCEMIA, INFANTILE
OMIM126065.0006 Diseasep.LEU409SERHYPERCALCEMIA, INFANTILE



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