CLN8 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	The immunogen for anti-CLN8 antibody: synthetic peptide directed towards the N terminal of human CLN8. Synthetic peptide located within the following region: VFGVQSTAAGLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAV
Formulation	Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose. Note that this product is shipped as lyophilized powder to China customers.
Purification	Affinity Purified
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	33 kDa
Gene Name	ceroid-lipofuscinosis, neuronal 8
Database Link	NP_061764 Entrez Gene 2055 Human UniProt ID Q9UBY8
Background	CLN8 is 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. Childhood-onset NCL are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of autofluorescent material, mainly ATP synthase subunit C, in various tissues, notably in neurons. Based on clinical features, the country of origin of patients, and the molecular genetic background of the disorder, at least seven different forms are thought to exist. CLN8 is characterized by normal early development, onset of generalized seizures between 5 and 10 years, and subsequent progressive mental retardation.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.
Synonyms	C8orf61; EPMR
Note	Dog: 100%; Human: 100%; Pig: 86%; Rat: 86%; Mouse: 86%; Guinea pig: 86%; Bovine: 79%; Rabbit: 79%
Reference Data
Protein Families	Druggable Genome, Transmembrane

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