Mitochondria Phenome Knowledgebase

Subcellular Location Mitochondria-related finds 11 Genes

Gene Ensembl Entrez Aliases Map Position SwissProt ID SwissProt Description Subcellular Locations Subcell PMIDs Protein Complex OMIM Gene OMIM Disease
ABCD1 ENSG00000101986 215 ABC42; ALD; ALDP; AMN Xq28 P33897 Adrenoleukodystrophy protein (ALDP) Mitochondria-related Peroxisome 12509471 300371 Adrenoleukodystrophy (ALD) [300100]
CLN3 ENSG00000188603 1201 BTS; MGC102840 16p12.1 Q13286 CLN3 protein Cytoplasm Golgi-apparatus Lysosome Mitochondria-related 8980123 9949212 607042 Neuronal ceroid lipofuscinosis juvenile type (CLN3) [204200]
CYBA ENSG00000051523 1535 - 16q24 P13498 Cytochrome b-245 light chain (p22 phagocyte B-cytochrome) (Neutrophil cytochrome B, 22 kDa polypeptide) (p22-phox) (p22phox) (Cytochrome B(558) alpha chain) (Cytochrome b558 alpha-subunit) (Superoxide-generating NADPH oxidase light chain subunit) Membrane Mitochondria-related 10788525 NADPH oxidase complex 608508 Chronic granulomatosis disease (CGD) [233690]
CYBB ENSG00000165168 1536 CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2 Xp21.1 P04839 Cytochrome B-245 heavy chain (P22 phagocyte B-cytochrome) (Neutrophil cytochrome B, 91 kDa polypeptide) (CGD91-PHOX) (GP91-PHOX) (GP91-1) (Heme binding membrane glycoprotein GP91PHOX) (Cytochrome B(558) beta chain) (Superoxide-generating NADPH oxidase heavy chain subunit) (NADPH oxidase 2) (NOX2) Membrane Mitochondria-related 10788525 NADPH oxidase complex 300481 Chronic granulomatosis disease X linked (CGD) [306400]
ECGF1 ENSG00000025708 1890 MNGIE; PDECGF; TP; hPD-ECGF 22q13|22q13.33 P19971 Thymidine phosphorylase precursor Cytoplasm Mitochondria-related Nucleus 9924029 10741286 131222 Myoneurogastrointestinal encephalopathy syndrome (MNGIE) [603041]
HD ENSG00000197386 3064 HTT; IT15 4p16.3 P42858 Huntingtin (Huntington's disease protein) (HD protein) Cytoplasm Mitochondria-related Nucleus 9778247 15340079 143100 Huntington disease (HD) [143100]
MTHFD1 ENSG00000100714 4522 MTHFC; MTHFD 14q24 P11586 C-1-tetrahydrofolate synthase, cytoplasmic Cytoplasm Mitochondria-related 3528153 15611115 172460 Neural tube defects (NTD) [601634]
SLC19A2 ENSG00000117479 10560 TC1; THT1; THTR1; TRMA 1q23.3 O60779 Thiamine transporter 1 (THTR-1) (ThTr1) (Thiamine carrier 1) (TC1) Membrane Mitochondria-related 10978358 603941 Thiamine responsive megaloblastic anemia syndrome (TRMA) [249270]

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