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PMM1 | phosphomannomutase 1; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain (262 aa) | |||
ACOT13 | acyl-CoA thioesterase 13; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3- hydroxyphenylacetyl-CoA and 3,4-dihydrohyphenylacetyl-CoA (in vitro) (140 aa) | |||
ACAT1 | acetyl-CoA acetyltransferase 1; Plays a major role in ketone body metabolism (427 aa) | |||
METTL21C | methyltransferase like 21C; Protein-lysine methyltransferase (264 aa) | |||
PMM2 | phosphomannomutase 2; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity) (246 aa) | |||
GGPS1 | geranylgeranyl diphosphate synthase 1; Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins (300 aa) | |||
HMGCR | 3-hydroxy-3-methylglutaryl-CoA reductase; Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins (888 aa) | |||
COQ5 | coenzyme Q5 homolog, methyltransferase (S. cerevisiae); Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3- methyl-6-methoxy-1,4-benzoquinol (DMQH2) (By similarity) (327 aa) | |||
WBSCR27 | Williams Beuren syndrome chromosome region 27 (245 aa) | |||
COQ2 | coenzyme Q2 homolog, prenyltransferase (yeast); Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB (421 aa) | |||
HAO2 | hydroxyacid oxidase 2 (long chain); Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids (351 aa) | |||
PRMT7 | protein arginine methyltransferase 7; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 ’Arg-3’ to form H4R3me2s. Plays a role in gene imprinting by being r [...] (692 aa) | |||
FDPS | farnesyl diphosphate synthase; Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate (419 aa) | |||
SOAT1 | sterol O-acyltransferase 1; Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase (550 aa) | |||
RUSC1 | RUN and SH3 domain containing 1; Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF- dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway (902 aa) | |||
PDSS2 | prenyl (decaprenyl) diphosphate synthase, subunit 2; Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10 (399 aa) | |||
VEGFA | vascular endothelial growth factor A (412 aa) | |||
PDSS1 | prenyl (decaprenyl) diphosphate synthase, subunit 1; Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10 (415 aa) | |||
UBIAD1 | UbiA prenyltransferase domain containing 1; Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2- methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of [...] (338 aa) | |||
NDUFAF5 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 5; Involved in the assembly of mitochondrial NADH-ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity (345 aa) | |||
HAO1 | hydroxyacid oxidase (glycolate oxidase) 1; Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2- hydroxy octanoate (370 aa) | |||
ALKBH8 | alkB, alkylation repair homolog 8 (E. coli); Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA. Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA. Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys). Required for normal survival after DNA damage. May inhibit apoptosis and promote cell survival and angiogenesis (664 aa) | |||
WBSCR22 | Williams Beuren syndrome chromosome region 22 (298 aa) | |||
KIAA1456 | KIAA1456 (454 aa) | |||
FAM173A | family with sequence similarity 173, member A (235 aa) | |||
ENSG00000267168 | Uncharacterized protein (100 aa) |