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IDH3G | isocitrate dehydrogenase 3 (NAD+) gamma (393 aa) | |||
DHODH | dihydroorotate dehydrogenase (quinone); Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor (395 aa) | |||
UMPS | uridine monophosphate synthetase (480 aa) | |||
IDH1 | isocitrate dehydrogenase 1 (NADP+), soluble (414 aa) | |||
SDHA | succinate dehydrogenase complex, subunit A, flavoprotein (Fp); Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor (664 aa) | |||
ATP6V1C2 | ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (427 aa) | |||
DPYS | dihydropyrimidinase; Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6- dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate (519 aa) | |||
DPYSL5 | dihydropyrimidinase-like 5; May have a function in neuronal differentiation and/or axon growth (564 aa) | |||
IDH3A | isocitrate dehydrogenase 3 (NAD+) alpha (366 aa) | |||
GLUL | glutamate-ammonia ligase; This enzyme has 2 functions- it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts (373 aa) | |||
DPYSL2 | dihydropyrimidinase-like 2; Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton (By similarity). Plays a role in neuron projection morphogenesis (572 aa) | |||
C5orf4 | chromosome 5 open reading frame 4 (333 aa) | |||
CRMP1 | collapsin response mediator protein 1; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration (686 aa) | |||
IDH2 | isocitrate dehydrogenase 2 (NADP+), mitochondrial; Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex (452 aa) | |||
DPYSL4 | dihydropyrimidinase-like 4; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity) (572 aa) | |||
RAD1 | RAD1 homolog (S. pombe); Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3’-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity [...] (282 aa) | |||
DPYSL3 | dihydropyrimidinase-like 3; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity) (684 aa) | |||
CBS | cystathionine-beta-synthase; Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury (By similarity) (551 aa) | |||
CYB5R4 | cytochrome b5 reductase 4; NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin (521 aa) | |||
DPYD | dihydropyrimidine dehydrogenase (1025 aa) | |||
LGSN | lengsin, lens protein with glutamine synthetase domain; May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity) (509 aa) | |||
CH25H | cholesterol 25-hydroxylase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25- hydroxycholesterol by macrophages may play a role in Leydig cell differentiation (272 aa) | |||
IDH3B | isocitrate dehydrogenase 3 (NAD+) beta (385 aa) | |||
MTPN | myotrophin; Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy (118 aa) | |||
ATP6V1C1 | ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (382 aa) | |||
FDXR | ferredoxin reductase; Serves as the first electron transfer protein in all the mitochondrial P450 systems. Including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver (497 aa) |