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CLN6
Description
CLN6 transmembrane ER protein
Image
No pdb structure
GO Annotations
Cellular Component
Nucleolus
Early Endosome
Endoplasmic Reticulum
Endoplasmic Reticulum Lumen
Endoplasmic Reticulum Membrane
Membrane
Integral Component Of Membrane
Intracellular Membrane-bounded Organelle
Membrane Raft
Molecular Function
Protein Binding
Lysophosphatidic Acid Binding
Protein Homodimerization Activity
Sulfatide Binding
Biological Process
Ganglioside Metabolic Process
Lysosome Organization
Lysosomal Lumen Acidification
Visual Perception
Cholesterol Metabolic Process
Protein Catabolic Process
Glycosaminoglycan Metabolic Process
Locomotion Involved In Locomotory Behavior
Cellular Macromolecule Catabolic Process
Positive Regulation Of Proteolysis
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
Major depressive disorder (
23377640
)
Restless legs syndrome (
29029846
)
Interacting Genes
26 interacting genes:
ARL13B
CD79A
CISD2
CLDN7
CLEC10A
CPLX4
CREB3L1
CYBC1
EBAG9
EVI2B
FAM209A
FNDC9
GJA8
GORAB
KIR2DL3
LIME1
LMNA
LRRC25
RIC3
SLC22A23
SLC30A4
STX1A
TEX264
TMEM139
TMEM237
TMPRSS2
Entrez ID
54982
HPRD ID
05991
Ensembl ID
ENSG00000128973
Uniprot IDs
A0A024R601
Q9NWW5
PDB IDs
Enriched GO Terms of Interacting Partners
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Tagcloud
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