Human | NCF1 | 653361 | neutrophil cytosolic factor 1 | Decreased activity of NADPH oxidase |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | Decreased activity of mitochondrial respiratory chain complex I |
Human | GFM1 | 85476 | G elongation factor, mitochondrial 1 | Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V |
Human | C20orf7 | 79133 | | Decreased activity of mitochondrial respiratory chain complex I |
Human | P2RY12 | 64805 | purinergic receptor P2Y, G-protein coupled, 12 | Platelets may show reduced ADP binding activity |
Human | STRA6 | 64220 | stimulated by retinoic acid 6 | study identifies an essential functional domain in STRA6 and a human polymorphism in this domain that leads to reduced vitamin A uptake activity |
Human | ACE2 | 59272 | angiotensin I converting enzyme 2 | report associates severe congenital uropathies and renal hypodysplasia with decreased renin-angiotensin system activity associated with the ACE II genotype and a possible functional imbalance among ATR1 receptors |
Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | Decreased activity of Coenzyme Q10-dependent respiratory chain complexes (I, II, III) |
Human | CIAPIN1 | 57019 | cytokine induced apoptosis inhibitor 1 | correlation between CIAPIN1 down regulation and decreased MDR1 transcriptional activity were observed |
Human | ADCK3 | 56997 | aarF domain containing kinase 3 | Decreased activity of Coenzyme Q10-dependent respiratory chain complexes (I, II, III) |
Human | MRPS22 | 56945 | mitochondrial ribosomal protein S22 | Skeletal muscle shows decreased activities of mitochondrial respiratory complexes I, III, IV, and V |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | Decreased activity of 3-methylcrotonyl-CoA carboxylase (less than 2%) |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Decreased activities of mitochondrial-encoded respiratory chain complexes Muscle biopsy shows decreased activity of cytochrome c oxidase Muscle biopsy shows decreased activity of cytochrome c oxidase in most cases |
Human | ALG1 | 56052 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | Severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal) |
Human | MBD5 | 55777 | methyl-CpG binding domain protein 5 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | Decreased dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity |
Human | APTX | 54840 | aprataxin | Decreased activity of Coenzyme Q10-dependent respiratory chain complexes (I, II, III) |
Human | PDP1 | 54704 | pyruvate dehyrogenase phosphatase catalytic subunit 1 | Decreased activity of the pyruvate dehydrogenase (PDH) complex Decreased activity of the PDH phosphatase |
Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | Individuals with decreased UGT1A1 activity due to the 7/7 genotype may be at greater risk for carcinogenesis, they also may have greater opportunity to decrease that risk through dietary intervention such as the addition of vegetables |
Human | UGT1A9 | 54600 | UDP glucuronosyltransferase 1 family, polypeptide A9 | Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6, related to reduced catalytic and transcriptional activities of UGTs, is associated with the decreased glucuronosyltransferase activity for SN-38 in Japanese |
Human | UGT1A7 | 54577 | UDP glucuronosyltransferase 1 family, polypeptide A7 | Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6, related to reduced catalytic and transcriptional activities of UGTs, is associated with the decreased glucuronosyltransferase activity for SN-38 in Japanese |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | Decreased activity of mitochondrial respiratory complexes I, II+III, IV, and V |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | Decreased activity of mitochondrial respiratory chain complex I |
Human | ROBLD3 | 28956 | | Decreased cytotoxic activity of CD8+ T cells |
Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | Decreased activity of Coenzyme Q10-dependent respiratory chain complexes (I, II, III) |