CLN8 anticorps (N-Term)

N° du produit ABIN406046

Détail du produit anti-CLN8 anticorps

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

Épitope: N-Term

Reactivité: Humain, Chien, Cobaye, Cheval

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp CLN8 est non-conjugé

Application: Western Blotting (WB)

Séquence: MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN

Homologie: Dog: 100%, Guinea Pig: 86%, Horse: 100%, Human: 100%,

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

Purification: Affinity Purified

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

Information d'application

Indications d'application: Optimal working dilutions should be determined experimentally by the investigator.

Commentaires:

Antigen size: 286 AA

Restrictions: For Research Use only

Stockage

Format: Liquid

Concentration: Lot specific

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

Agent conservateur: Sodium azide

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

Conseil sur la manipulation: Avoid repeated freeze-thaw cycles.

Stock: -20 °C

Stockage commentaire: 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.

Détails sur CLN8

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

Autre désignation: CLN8 (CLN8 Produits)

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

Sujet: 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

Poids moléculaire: 33 kDa

ID gène: 2055

NCBI Accession: NM_018941, NP_061764

UniProt: Q9UBY8

Pathways: Regulation of Cell Size, Dicarboxylic Acid Transport