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Results for the Protein: Q12887
292495084

COX10_HUMAN RecName: Full=Protoheme IX farnesyltransferase, mitochondrial; AltName: Full=Heme O synthase; Flags: Precursor

Known Diseases associated with this Protein:
  DUE TO
  ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
  MITOCHONDRIAL COMPLEX IV DEFICIENCY
  MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
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Default View:

CyoE - COG0109
UbiA - COG0382
UbiA - pfam01040


Swiss-Prot Protein: Q12887
Identical to: NP_001294
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CyoECOG01093.1e-69127436
UbiACOG03825.8e-07141432
UbiApfam010402.3e-27166426

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2072279 Polymorphismp.ARG159GLNN/A
Swiss-ProtVAR_026563Diseasep.ASN204LYSMitochondrial complex IV deficiency (MT-C4D)
Swiss-ProtVAR_026565Diseasep.ASP336GLYMitochondrial complex IV deficiency (MT-C4D)
Swiss-ProtVAR_026566Diseasep.ASP336VALMitochondrial complex IV deficiency (MT-C4D)
Swiss-ProtVAR_060234Polymorphismp.GLY340ASPN/A
Swiss-ProtVAR_064768Polymorphismp.LEU258HISN/A
Swiss-ProtVAR_026564Diseasep.PRO225LEUMitochondrial complex IV deficiency (MT-C4D)
dbSNPrs16948978 Polymorphismp.THR28ILEN/A
Swiss-ProtVAR_026562Diseasep.THR196LYSMitochondrial complex IV deficiency (MT-C4D)
dbSNPrs2230351 Polymorphismp.THR62SERN/A
dbSNPrs16948986 Polymorphismp.TYR97CYSN/A
OMIM602125.0001 Diseasep.ASN204LYSMITOCHONDRIAL COMPLEX IV DEFICIENCY||ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY||DUE TO
OMIM602125.0005 Diseasep.ASP336GLYLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM602125.0004 Diseasep.ASP336VALLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM602125.0003 Diseasep.PRO225LEUMITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM602125.0002 Diseasep.THR196LYSMITOCHONDRIAL COMPLEX IV DEFICIENCY



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