Ceroid-lipofuscinosis neuronal protein 5; Protein CLN5;
Categories
Primary Antibodies
Clonality
polyclonal
Description
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.Savukoski M., Nat. Genet. 19:286-288(1998).Dunham A., Nature 428:522-528(2004).
Host
Rabbit
Immunogen
Synthesized peptide derived from internal of Human CLN5.
Involvement In Disease
Ceroid lipofuscinosis, neuronal, 5 (CLN5)
Raised In
Rabbit
Reactivity
Human
Regulatory
RUO
Relevance
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.
Savukoski M., Nat. Genet. 19:286-288(1998). Dunham A., Nature 428:522-528(2004).
Species
Homo Sapiens (Human)
Specificity
The antibody detects endogenous levels of total CLN5 protein.
Subcellular Location
Ceroid-lipofuscinosis neuronal protein 5, secreted form: Lysosome, SUBCELLULAR LOCATION: Ceroid-lipofuscinosis neuronal protein 5: Membrane, Single-pass type II membrane protein
Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane
Protein Families
CLN5 family
Tissue Specificity
Ubiquitous.
Buffer
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Format
liquid
Purification
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Purity
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.