CLN8 rabbit pAb

Applications: WB;ELISA
Reactivity: Human;Rat;Mouse;
Source: Rabbit
Dilution: WB 1:500-2000 ELISA 1:5000-20000
Immunogen: Synthesized peptide derived from human protein . at AA range: 231-280
Storage_stability: -20°C/1 year
Clonality: Polyclonal
Isotype: IgG
Concentration: 1 mg/ml
Observed_band(KD): 31kD
Human_gene_id: 2055
Human_swiss_prot_no: Q9UBY8
Subcellular_location: Endoplasmic reticulum membrane ; Multi-pass membrane protein . Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein . Endoplasmic reticulum .
Background: ceroid-lipofuscinosis, neuronal 8(CLN8) Homo sapiens 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],