Cell Biology Antibodies 7

Anti-CLN8 Antibody (CAB16843)

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SKU:
CAB16843
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-CLN8 Antibody
Antibody SKU:CAB16843
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:A synthetic peptide of human CLN8.
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:
Immunogen:A synthetic peptide of human CLN8.
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:2055
Uniprot:Q9UBY8
Cellular Location:
Calculated MW:
Observed MW:Refer to figures
Synonyms:CLN8, C8orf61, EPMR
Background:This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.
UniProt Protein Function:CLN8: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8). 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). 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.
UniProt Protein Details:

Protein type:Cell development/differentiation; Endoplasmic reticulum; Membrane protein, multi-pass; Membrane protein, integral; Apoptosis

Chromosomal Location of Human Ortholog: 8p23

Cellular Component: endoplasmic reticulum; ER-Golgi intermediate compartment

Biological Process: ceramide metabolic process; cholesterol metabolic process; nervous system development; phospholipid metabolic process

Disease: Ceroid Lipofuscinosis, Neuronal, 8; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

NCBI Summary:This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
UniProt Code:Q9UBY8
NCBI GenInfo Identifier:145559455
NCBI Gene ID:2055
NCBI Accession:Q9UBY8.3
UniProt Secondary Accession:Q9UBY8,Q86U71, Q96I95,
UniProt Related Accession:Q9UBY8
Molecular Weight:32,787 Da
NCBI Full Name:Protein CLN8
NCBI Synonym Full Names:ceroid-lipofuscinosis, neuronal 8
NCBI Official Symbol:CLN8  
NCBI Official Synonym Symbols:EPMR; C8orf61  
NCBI Protein Information:protein CLN8
UniProt Protein Name:Protein CLN8
Protein Family:Protein
UniProt Gene Name:CLN8  
UniProt Entry Name:CLN8_HUMAN
Anti-CLN8 Antibody (CAB16843)Western blot analysis of extracts of various cell lines, using CLN8 antibody (CAB16843) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 90s.
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