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CLN8
Description
CLN8 transmembrane ER and ERGIC protein
Image
No pdb structure
GO Annotations
Cellular Component
Mitochondrion
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Endoplasmic Reticulum-Golgi Intermediate Compartment
Integral Component Of Membrane
Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane
Presynapse
Molecular Function
Protein Binding
Ceramide Binding
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
Glutamate Reuptake
Lipid Homeostasis
Retina Development In Camera-type Eye
Neurofilament Cytoskeleton Organization
Pathways
Drugs
Diseases
Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10)
Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
GWAS
Eye morphology (
29921221
)
Gaucher disease severity (
22388998
)
Systolic blood pressure (
30224653
)
Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes (
28736931
)
Interacting Genes
30 interacting genes:
ARL6IP5
BNIP3
BNIP3L
CD9
CYB5B
ERG28
FZD7
GABARAPL2
GPM6B
MTX1
NDRG2
PDIA6
PLP1
PLP2
PTPRN
RRP15
RTN4
SELENOK
SPCS2
STX8
TMEM107
TMEM11
TMEM128
TMEM134
TMEM147
TMEM14A
TUBB4A
UBC
YIPF6
ZUP1
Entrez ID
2055
HPRD ID
06383
Ensembl ID
ENSG00000182372
Uniprot IDs
A0A024QZ57
Q9UBY8
PDB IDs
Enriched GO Terms of Interacting Partners
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Tagcloud
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