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KCNQ3 | Potassium voltage-gated channel subfamily Q member 3; Belongs to the potassium channel family. (860 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. (1997 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. (1965 aa) | ||||
SNAP25 | Synaptosomal-associated protein; Belongs to the SNAP-25 family. (205 aa) | ||||
GBA | Glucosylceramidase. (516 aa) | ||||
TSC2 | TSC complex subunit 2. (1745 aa) | ||||
GABRB3 | Gamma-aminobutyric acid type A receptor beta3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (441 aa) | ||||
CDKL5 | Cyclin dependent kinase like 5. (947 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. Belongs to the IL-2 family. (152 aa) | ||||
C9orf72 | C9orf72-SMCR8 complex subunit. (481 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 (By similarity); Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A4 subfamily. (612 aa) | ||||
MTOR | Serine/threonine-protein kinase mTOR; Belongs to the PI3/PI4-kinase family. (2549 aa) | ||||
PGRMC1 | Progesterone receptor membrane component 1; Belongs to the cytochrome b5 family. (195 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). (504 aa) | ||||
TH | Tyrosine hydroxylase. (498 aa) | ||||
GRIN2A | Glutamate ionotropic receptor NMDA type subunit 2A. (1462 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. (153 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. (1876 aa) | ||||
BCL2 | BCL2 apoptosis regulator. (183 aa) | ||||
KCNT1 | Potassium sodium-activated channel subfamily T member 1. (1229 aa) | ||||
NEFL | Neurofilament light; Belongs to the intermediate filament family. (545 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. (2105 aa) | ||||
WFS1 | Wolframin ER transmembrane glycoprotein. (888 aa) | ||||
APP | Gamma-secretase C-terminal fragment 50; 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 medi [...] (770 aa) | ||||
PCDH19 | Protocadherin 19. (1147 aa) | ||||
FLOT1 | Flotillin; Belongs to the band 7/mec-2 family. Flotillin subfamily. (427 aa) | ||||
HTT | Huntingtin. (3133 aa) | ||||
ERLIN2 | ER lipid raft associated 2. (339 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. (467 aa) | ||||
KCNQ2 | Potassium voltage-gated channel subfamily Q member 2; Belongs to the potassium channel family. (871 aa) | ||||
KPNB1 | Karyopherin subunit beta 1. (876 aa) | ||||
TFEB | Transcription factor EB. (468 aa) | ||||
SNCA | Alpha-synuclein; Belongs to the synuclein family. (140 aa) | ||||
STXBP1 | Syntaxin binding protein 1; Belongs to the STXBP/unc-18/SEC1 family. (603 aa) | ||||
GRIN2D | Glutamate ionotropic receptor NMDA type subunit 2D. (808 aa) | ||||
CAV1 | 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. (178 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 [...] (289 aa) | ||||
SIGMAR1 | Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. [...] (223 aa) | ||||
BECN1 | Beclin 1. (448 aa) |