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Results for the Protein: Q02318
399288

CP27A_HUMAN RecName: Full=Sterol 26-hydroxylase, mitochondrial; AltName: Full=5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; AltName: Full=Cytochrome P-450C27/25; AltName: Full=Cytochrome P450 27; AltName: Full=Sterol 27-hydroxylase; AltName: Full=Vitamin D(3) 25-hydroxylase; Flags: Precursor

Known Diseases associated with this Protein:
  CEREBROTENDINOUS XANTHOMATOSIS
  CEREBROTENDINOUS XANTHOMATOSIS (CTX)
16
2
9
0
9
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Default View:

CypX - COG2124
p450 - pfam00067


Swiss-Prot Protein: Q02318
Identical to: NP_000775
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CypXCOG21249.4e-4155530
p450pfam000673.7e-15161526

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_061046Polymorphismp.ALA169VALN/A
Swiss-ProtVAR_001303Diseasep.ARG395CYSCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_001304Diseasep.ARG479CYSCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_012286Diseasep.ARG405GLNCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_012287Diseasep.ARG474GLNCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_012285Diseasep.ARG395SERCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_012288Diseasep.ARG474TRPCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_016966Diseasep.GLY145GLUCerebrotendinous xanthomatosis (CTX)
Swiss-ProtVAR_048467Polymorphismp.THR175METN/A
OMIM606530.0002 Diseasep.ARG362CYSCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0001 Diseasep.ARG446CYSCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0007 Diseasep.ARG372GLNCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0005 Diseasep.ARG441GLNCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0014 Diseasep.ARG479GLYCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0008 Diseasep.ARG362SERCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0006 606530.0010 Diseasep.ARG441TRPCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0011 Diseasep.GLY112GLUCEREBROTENDINOUS XANTHOMATOSIS
OMIM606530.0013 Diseasep.THR339METCEREBROTENDINOUS XANTHOMATOSIS



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