CLN8

Gene Name		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Mitochondrion Endoplasmic Reticulum Endoplasmic Reticulum Membrane Endoplasmic Reticulum-Golgi Intermediate Compartment Integral Component Of Membrane Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane
	Molecular Function
	Biological Process	Age-dependent Response To Oxidative Stress Phospholipid Metabolic Process Ceramide Metabolic Process Lipid Transport Mitochondrial Membrane Organization Lysosome Organization Nervous System Development Visual Perception Adult Walking Behavior Cholesterol Metabolic Process Associative Learning Regulation Of Cell Size Lipid Biosynthetic Process Somatic Motor Neuron Differentiation Protein Catabolic Process Social Behavior Negative Regulation Of Apoptotic Process Cellular Protein Catabolic Process Photoreceptor Cell Maintenance Negative Regulation Of Proteolysis Ceramide Biosynthetic Process Musculoskeletal Movement Neuromuscular Process Controlling Posture Neuromuscular Process Controlling Balance Negative Regulation Of Transferase Activity L-glutamate Uptake Involved In Synaptic Transmission Retina Development In Camera-type Eye Neurofilament Cytoskeleton Organization
Pathways
Drugs
Diseases
GWAS		Gaucher disease severity ( 22388998)
Protein-protein Interactions		29 interactors: ARL6IP5 BNIP3 BNIP3L C14orf1 CD9 CYB5B GABARAPL2 GPM6B MTX1 NDRG2 PDIA6 PLP1 PLP2 PTPRN RRP15 RTN4 SELK SPCS2 STX8 TMEM107 TMEM11 TMEM128 TMEM134 TMEM147 TMEM14A TUBB4A UBC YIPF6 ZUFSP
Entrez ID		2055
HPRD ID		06383
Ensembl ID		ENSG00000182372
Uniprot IDs		Q9UBY8
PDB IDs
Enriched GO Terms of Interacting Partners?		Mitochondrial Protein Catabolic Process Transport Membrane Organization Apoptotic Signaling Pathway Mitochondrion Organization Mitochondrial Outer Membrane Permeabilization Establishment Of Localization In Cell Negative Regulation Of Membrane Potential Positive Regulation Of Mitochondrial Membrane Permeability Involved In Apoptotic Process Positive Regulation Of Mitochondrial Membrane Permeability Regulation Of Mitochondrial Membrane Permeability Involved In Apoptotic Process Membrane Fusion Apoptotic Process Cellular Localization Programmed Cell Death Cell Death Death Mitochondrial Transport Organelle Organization Intracellular Transport Regulation Of Mitochondrial Membrane Permeability Regulation Of Membrane Permeability Oligodendrocyte Development Substantia Nigra Development Response To Oxidative Stress Intrinsic Apoptotic Signaling Pathway Response To Stress Intrinsic Apoptotic Signaling Pathway In Response To Hypoxia Neural Nucleus Development Gliogenesis Mitochondrial Membrane Organization Protein Transport Dense Core Granule Maturation Apoptotic Mitochondrial Changes Positive Regulation Of Apoptotic Process Oligodendrocyte Differentiation Establishment Of Protein Localization Positive Regulation Of Programmed Cell Death Positive Regulation Of Cell Death Cellular Response To Stress Regulation Of Branching Morphogenesis Of A Nerve Negative Regulation Of Serotonin Uptake Midbrain Development Glial Cell Development Cellular Response To Hypoxia Cell Communication Cellular Response To Decreased Oxygen Levels Negative Regulation Of Mitochondrial Membrane Potential Negative Regulation Of Mitochondrial Fusion Granzyme-mediated Apoptotic Signaling Pathway
Tagcloud ?		brainstem ceroid cln6 connectivity displayed epilepsy exclusively flurothyl generalized infantile kindled kindling latencies latency lipofuscinoses mnd nclf neuronal northern phenotypes plasticity postnatal posture reexposed repeated retesting seizure seizures shared