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GRN | granulin (593 aa) | |||
MIF | macrophage migration inhibitory factor (glycosylation-inhibiting factor); Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti- inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is impor [...] (115 aa) | |||
NR3C1 | nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor); Receptor for glucocorticoids (GC). Has a dual mode of action- as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth. Involved in [...] (778 aa) | |||
GOT2 | glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2); Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids (430 aa) | |||
TYR | tyrosinase; This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone (529 aa) | |||
BHMT | betaine--homocysteine S-methyltransferase; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline (406 aa) | |||
HPD | 4-hydroxyphenylpyruvate dioxygenase; Key enzyme in the degradation of tyrosine (393 aa) | |||
MAT2A | methionine adenosyltransferase II, alpha; Catalyzes the formation of S-adenosylmethionine from methionine and ATP (By similarity) (395 aa) | |||
FOXA3 | forkhead box A3; Transcription factor that is thought to act as a ’pioneer’ factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC promoter. Binds to the [...] (350 aa) | |||
FOXA2 | forkhead box A2; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a ’pioneer’ factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5’-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3’ (By similarity). In embryonic development is required for notochord formation. Involved in the devel [...] (463 aa) | |||
TPO | thyroid peroxidase (933 aa) | |||
MAT2B | methionine adenosyltransferase II, beta (334 aa) | |||
ADI1 | acireductone dioxygenase 1 (179 aa) | |||
ACACB | acetyl-CoA carboxylase beta; ACC-beta may be involved in the provision of malonyl-CoA or in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. Carries out three functions- biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase (2458 aa) | |||
PRDX6 | peroxiredoxin 6; Involved in redox regulation of the cell. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. May play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury (224 aa) | |||
IL4I1 | interleukin 4 induced 1; Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity) (589 aa) | |||
ACACA | acetyl-CoA carboxylase alpha (2383 aa) | |||
TAT | tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine (454 aa) | |||
DDC | dopa decarboxylase (aromatic L-amino acid decarboxylase); Catalyzes the decarboxylation of L-3,4- dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine (480 aa) | |||
MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase; Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity) (1265 aa) | |||
GOT1 | glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1); Biosynthesis of L-glutamate from L-aspartate or L- cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is conve [...] (413 aa) | |||
MAT1A | methionine adenosyltransferase I, alpha; Catalyzes the formation of S-adenosylmethionine from methionine and ATP (By similarity) (395 aa) | |||
THNSL1 | threonine synthase-like 1 (S. cerevisiae) (743 aa) | |||
TH | tyrosine hydroxylase; Plays an important role in the physiology of adrenergic neurons (528 aa) | |||
UBE3A | ubiquitin protein ligase E3A (875 aa) | |||
PAH | phenylalanine hydroxylase (452 aa) |