CLN8 Antikörper (N-Term)

Produktnummer ABIN503034

Produktdetails anti-CLN8 Antikörper

Target: CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8))

Bindungsspezifität: N-Term

Reaktivität: Human, Ratte, Hund, Maus, Meerschweinchen, Rind (Kuh), Kaninchen

Wirt: Kaninchen

Klonalität: Polyklonal

Konjugat: Dieser CLN8 Antikörper ist unkonjugiert

Applikation: Western Blotting (WB)

Sequenz: VFGVQSTAAG LWALLGDPVL HADKARGQQN WCWFHITTAT GFFCFENVAV

Homologie: Cow: 79%, Dog: 100%, Guinea Pig: 86%, Human: 100%, Mouse: 86%, Rabbit: 79%, Rat: 86%

Produktmerkmale: This is a rabbit polyclonal antibody against CLN8. It was validated on Western Blot using a cell lysate as a positive control.

Aufreinigung: Affinity Purified

Immunogen: The immunogen is a synthetic peptide directed towards the N terminal region of human CLN8

Anwendungsinformationen

Applikationshinweise: Optimal working dilutions should be determined experimentally by the investigator.

Kommentare:

Antigen size: 286 AA

Beschränkungen: Nur für Forschungszwecke einsetzbar

Handhabung

Format: Liquid

Konzentration: Lot specific

Buffer: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09 % (w/v) sodium azide and 2 % sucrose.

Konservierungsmittel: Sodium azide

Vorsichtsmaßnahmen: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Handhabung: Avoid repeated freeze-thaw cycles.

Lagerung: -20 °C

Informationen zur Lagerung: For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.

Details zu CLN8

Target: CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8))

Andere Bezeichnung: CLN8 (CLN8 Produkte)

Synonyme: mnd antikoerper, C8orf61 antikoerper, EPMR antikoerper, CLN8, transmembrane ER and ERGIC protein antikoerper, ceroid-lipofuscinosis, neuronal 8 antikoerper, CLN8 antikoerper, Cln8 antikoerper

Hintergrund: 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.
Alias Symbols: C8orf61, EPMR, FLJ39417
Protein Interaction Partner: YIPF6, ZUFSP, TMEM128, TMEM107, CYB5B, TMEM134, SELK, NDRG2, RTN4, RRP15, TMEM14A, GABARAPL2, C14orf1, ARL6IP5, TMEM147, TUBB4A, PDIA6, SPCS2, STX8, VAPA, TMEM11, UBC, PTPRN, PLP2, PLP1, MTX1, GPM6B, CD9, BNIP3L, BNIP3,
Protein Size: 286

Molekulargewicht: 33 kDa

Gen-ID: 2055

NCBI Accession: NM_018941, NP_061764

UniProt: Q9UBY8

Pathways: Regulation of Cell Size, Dicarboxylic Acid Transport