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Results for the Protein: Q9UKU7
26006699

ACAD8_HUMAN RecName: Full=Isobutyryl-CoA dehydrogenase, mitochondrial; AltName: Full=Activator-recruited cofactor 42 kDa component; Short=ARC42; AltName: Full=Acyl-CoA dehydrogenase family member 8; Short=ACAD-8; Flags: Precursor

Known Diseases associated with this Protein:
  ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
  ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY (IBDD)
14
0
5
0
9
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Acyl-CoA_dh_2 - pfam08028


Swiss-Prot Protein: Q9UKU7
Identical to: NP_055199
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035077Diseasep.ALA320THRIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035078Diseasep.ARG334CYSIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035076Diseasep.ARG302GLNIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035072Diseasep.ASP134TYRIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035079Diseasep.GLN385ARGIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035073Diseasep.GLY137ARGIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035071Diseasep.MET128ILEIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035074Diseasep.MET152THRIsobutyryl-CoA dehydrogenase deficiency (IBDD)
Swiss-ProtVAR_035075Diseasep.VAL203ILEIsobutyryl-CoA dehydrogenase deficiency (IBDD)
OMIM604773.0005 Diseasep.ARG302GLNISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM604773.0003 Diseasep.ARG308TRPISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM604773.0002 Diseasep.GLY355SERISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM604773.0004 Diseasep.HIS267GLNISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM604773.0001 Diseasep.MET103THRISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY



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