Rabbit Anti-CLN8/FITC Conjugated antibody

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Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); Cln8; CLN8_HUMAN; EPMR; Protein CLN8.

Cat:

SL11715R-FITC

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Pig,Horse,Rabbit,)

Immunogen：

KLH conjugated synthetic peptide derived from human CLN8 (201-286aa)

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

33kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
CLN8, a 286 amino acid transmembrane protein, localizes mainly to the endoplasmic reticulum, but also partially to the ER-Golgi intermediate compartment (ERGIC). Mutations in the CLN8 gene cause neuronal ceroid lipofuscinosis 8 and progressive epilepsy with mental retardation (EPMR). Both disorders are forms of neuronal ceroid-lipofuscinose (NCL), a group of progressive neurodegenerative diseases found in children, characterized by failure of psychomotor development, impaired vision, seizures and premature death. The CLN8 protein is one of eight proteins in the CLN family, including CLN1-CLN7, which are associated with NCL.

Function:
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.

Subcellular Location:
Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Post-translational modifications:
Does not seem to be N-glycosylated.

DISEASE:
Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]. A form of neuronal ceroid lipofuscinosis with onset in childhood. 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 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003]. A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.

Similarity:
Contains 1 TLC (TRAM/LAG1/CLN8) domain.

Database links:

Entrez Gene: 488558 Dog

Entrez Gene: 2055 Human

Entrez Gene: 26889 Mouse

Omim: 607837 Human

SwissProt: Q5JZQ7 Dog

SwissProt: Q9UBY8 Human

SwissProt: Q9QUK3 Mouse

Unigene: 127675 Human

Unigene: 254027 Mouse

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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