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Product Name CLN6 Chinese Name 神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体 Alias Ceroid lipofuscinosis, neuronal 6, late infantile, variant; CLN6 protein; FLJ20561; Nclf; Protein CLN6; CLN6_HUMAN. Research Area Cell biology Neurobiology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Pig, Cow, Horse, Rabbit, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 36kDa Cellular localization cytoplasmic The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CLN6: 101-200/311 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail CLN6, a 311 amino acid protein, has seven predicted transmembrane domains and is conserved across vertebrates. The CLN6 protein localizes to the endoplasmic reticulum but contributes to lysosomal function. Mutations in the CLN6 gene cause variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL), a lysosomal storage disorder marked by progressive mental deterioration and blindness; part of a group of severe inherited neurodegenerative disorders affecting children wherein lysosomes accumulate storage material, causing the death of neurons. CLN6 is one of eight proteins, including CLN1-8, that are associated with NCL.
Function:
Defects in CLN6 are the cause of variant late onset infantile neuronal ceroid lipofuscinosis (vLINCL).
Subunit:
Endoplasmic reticulum membrane; Multi pass membrane protein.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
DISEASE:
Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]. A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]. An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.
SWISS:
Q9NWW5
Gene ID:
54982
Database links:
Entrez Gene: 54982 Human
Entrez Gene: 76524 Mouse
Omim: 606725 Human
SwissProt: Q9NWW5 Human
SwissProt: A0PJN2 Mouse
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