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Results for the Protein: Q15067
126302511
51

ACOX1_HUMAN RecName: Full=Peroxisomal acyl-coenzyme A oxidase 1; Short=AOX; AltName: Full=Palmitoyl-CoA oxidase; AltName: Full=Straight-chain acyl-CoA oxidase; Short=SCOX

Known Diseases associated with this Protein:
  ADRENOLEUKODYSTROPHY, PSEUDONEONATAL (PSEUDO-NALD)
  PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY
10
4
4
3
7
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Default View:

AXO - cd01150
VLCAD - cd01161
CaiA - COG1960
ACAD - cd00567
GCD - cd01151
Acyl-CoA_dh_M - pfam02770
ACOX - pfam01756


Swiss-Prot Protein: Q15067
Identical to: NP_009223
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AXOcd011503638
VLCADcd011610.0005217440
CaiACOG19601.9e-0822442
ACADcd005675.6e-7031433
GCDcd011513.9e-0539434
Acyl-CoA_dh_Mpfam027700.00023135195
ACOXpfam017561.4e-89476660

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35629489 Polymorphismp.ARG591CYSN/A
Swiss-ProtVAR_067043Diseasep.GLN309ARGAdrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-ProtVAR_025789Diseasep.GLY178CYSAdrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
dbSNPrs3744032 Polymorphismp.GLY101SERN/A
Swiss-ProtVAR_067042Diseasep.GLY231VALAdrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
dbSNPrs1135640 Polymorphismp.ILE312METN/A
Swiss-ProtVAR_025790Diseasep.MET278VALAdrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-ProtVAR_067041Diseasep.SER184LEUAdrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-ProtVAR_067044Diseasep.SER310PROAdrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)
Swiss-ProtVAR_030619Polymorphismp.THR153ILEN/A
OMIM609751.0005 Diseasep.ARG148TERPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM609751.0004 Diseasep.GLN309ARGPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM609751.0003 Diseasep.GLY178CYSPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM609751.0002 Diseasep.MET278VALPEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY



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