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HTT | Huntingtin. (3170 aa) | ||||
MTOR | Serine/threonine-protein kinase mTOR; Belongs to the PI3/PI4-kinase family. (2541 aa) | ||||
CYCS | Cytochrome c; Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain. (105 aa) | ||||
GABRB3 | Gamma-aminobutyric acid receptor subunit beta-3 isoform 1; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (473 aa) | ||||
CAV2 | Caveolin; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity; Belongs to the caveolin family. (162 aa) | ||||
BCL2 | BCL2 apoptosis regulator. (241 aa) | ||||
GBA | Glucosylceramidase. (533 aa) | ||||
SOD1 | 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. (161 aa) | ||||
CYP46A1 | Cytochrome P450 family 46 subfamily A member 1; Belongs to the cytochrome P450 family. (583 aa) | ||||
ACHE | Uncharacterized protein; Belongs to the type-B carboxylesterase/lipase family. (848 aa) | ||||
SNAP25 | Synaptosomal-associated protein 25; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells. Belongs to the SNAP-25 family. (206 aa) | ||||
SNCA | Alpha-synuclein; Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores. Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis. Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs [...] (146 aa) | ||||
CDKL5 | Cyclin dependent kinase like 5. (1030 aa) | ||||
BDNF | Brain-derived neurotrophic factor; Important signaling molecule that activates signaling cascades downstream of NTRK2 (By similarity). During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including lo [...] (329 aa) | ||||
GABRB1 | Gamma-aminobutyric acid type A receptor beta3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (474 aa) | ||||
BECN1 | Beclin 1. (507 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). (498 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. (2008 aa) | ||||
PLPBP | Pyridoxal phosphate homeostasis protein; Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'- phosphate (PLP), the active form of vitamin B6. (556 aa) | ||||
GRIN2A | Glutamate ionotropic receptor NMDA type subunit 2A. (1464 aa) | ||||
BCHE | Cholinesterase; Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters (By similarity). (602 aa) | ||||
TFEB | Transcription factor EB. (490 aa) | ||||
PSEN1 | Presenilin; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. Belongs to the peptidase A22A family. (463 aa) | ||||
KCNT1 | Potassium sodium-activated channel subfamily T member 1. (1256 aa) | ||||
IL2 | Interleukin-2; Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Can stimulate B-cells, monocytes, lymphokine-activated killer cells, natural killer cells, and glioma cells (By similarity); Belongs to the IL-2 family. (154 aa) | ||||
KPNB1 | Karyopherin subunit beta 1. (856 aa) | ||||
CYP2D42 | Cytochrome P450 CYP2D42; Belongs to the cytochrome P450 family. (497 aa) | ||||
C15H9orf72 | Uncharacterized protein. (481 aa) | ||||
STXBP1 | Syntaxin-binding protein 1 isoform a; Belongs to the STXBP/unc-18/SEC1 family. (603 aa) | ||||
KCNQ2 | Potassium voltage-gated channel subfamily Q member 2. (1110 aa) | ||||
PGRMC1 | Membrane-associated progesterone receptor component 1; Belongs to the cytochrome b5 family. (195 aa) | ||||
APP | Amyloid-beta A4 protein; Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis. Involved in cell mobility and transcription regulation through protein-protein interactions (By similarity). Can promote transcription activation through binding to APBB1-KAT5 and inhibit Notch signaling through interaction with Numb (By similarity). Couples to apoptosis-inducing pathways such as those mediated by G(O) an [...] (751 aa) | ||||
CAV1 | Caveolin 1. (303 aa) | ||||
FLOT1 | Flotillin-1; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. (439 aa) | ||||
WFS1 | Wolframin ER transmembrane glycoprotein. (890 aa) | ||||
PCDH19 | Protocadherin-19 isoform c. (1148 aa) | ||||
KCNQ3 | Potassium voltage-gated channel subfamily KQT member 3 isoform 1; Belongs to the potassium channel family. (872 aa) | ||||
GRIN2D | Glutamate ionotropic receptor NMDA type subunit 2D. (1336 aa) | ||||
TH | Tyrosine hydroxylase. (501 aa) | ||||
CACNA1A | Voltage-dependent P/Q-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q- type calcium currents. (2411 aa) | ||||
SLC6A4 | Sodium-dependent serotonin transporter; Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A4 subfamily. (630 aa) | ||||
NEFL | Neurofilament light polypeptide; Belongs to the intermediate filament family. (543 aa) | ||||
TSC2 | TSC complex subunit 2. (2057 aa) | ||||
SCN2A | 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. (2005 aa) | ||||
CSF1 | Macrophage colony-stimulating factor 1; Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female [...] (555 aa) | ||||
SCN8A | 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. (1980 aa) |