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| ASPA | Aspartoacylase. (313 aa) | ||||
| TPP1 | Tripeptidyl peptidase 1. (572 aa) | ||||
| LMO2 | LIM domain only 2. (151 aa) | ||||
| CLN6 | Uncharacterized protein. (299 aa) | ||||
| ARSA | Arylsulfatase A. (507 aa) | ||||
| SOD1 | Superoxide dismutase 1. (152 aa) | ||||
| GM2A | GM2 ganglioside activator. (193 aa) | ||||
| SUMF1 | Sulfatase modifying factor 1. (299 aa) | ||||
| UBE3A | Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates. (875 aa) | ||||
| IDS | Sulfatase domain-containing protein. (420 aa) | ||||
| LPL | Lipoprotein lipase; Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage. Mediates margination of triglyceride-rich lipoprotein particles in capillaries. Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans; Belongs to the AB hydrolase superfamily. Lipase family. (478 aa) | ||||
| DNM1 | Dynamin 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. (812 aa) | ||||
| NPY | C-flanking peptide of NPY; NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone; Belongs to the NPY family. (84 aa) | ||||
| MAPT | Microtubule-associated protein. (771 aa) | ||||
| CD34 | CD34 molecule. (384 aa) | ||||
| CDKL5 | Cyclin dependent kinase like 5. (960 aa) | ||||
| HTT | Uncharacterized protein. (3051 aa) | ||||
| C9orf72 | C9orf72-SMCR8 complex subunit. (481 aa) | ||||
| GLB1 | Beta-galactosidase. (649 aa) | ||||
| MFSD8 | Major facilitator superfamily domain containing 8. (519 aa) | ||||
| CLN5 | Ceroid-lipofuscinosis neuronal protein 5, secreted form; Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane; Belongs to the CLN5 family. (357 aa) | ||||
| IL2RG | Fibronectin type-III domain-containing protein. (405 aa) | ||||
| IDUA | Iduronidase alpha-L-. (496 aa) | ||||
| NCK1 | Cytoplasmic protein. (377 aa) | ||||
| MECP2 | Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC). (482 aa) | ||||
| CCL5 | C-C motif chemokine. (91 aa) | ||||
| FOXG1 | Forkhead box G1. (431 aa) | ||||
| SCN1A | Sodium channel protein; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. (2001 aa) | ||||
| SOD1-2 | Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems; Belongs to the Cu-Zn superoxide dismutase family. (152 aa) | ||||
| ADA | Adenosine deaminase. (363 aa) | ||||
| CTSD | Cathepsin D; Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation. (121 aa) | ||||
| GNS | N-acetylglucosamine-6-sulfatase; Belongs to the sulfatase family. (552 aa) | ||||
| GALC | Galactosylceramidase. (690 aa) | ||||
| CLN3 | Battenin. (438 aa) | ||||
| COQ2 | 4-hydroxybenzoate polyprenyltransferase, mitochondrial; 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, generating the first membrane-bound Q intermediate. (294 aa) | ||||
| NAGLU | N-acetyl-alpha-glucosaminidase. (741 aa) | ||||
| CD38 | Uncharacterized protein. (45 aa) | ||||
| OTC | Ornithine carbamoyltransferase, mitochondrial. (355 aa) | ||||