Description
| 抗体名: | CLN5 Antibody |
| 抗体コード: | PACO02444 |
| サイズ: | 50ug |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, WB |
| 推奨される希釈: | WB:1:500-1:2000 |
| 反応性: | Human, Mouse, Rat |
| 免疫原: | synthesized peptide derived from the Internal region of human CLN5. |
| 憲法: | Liquid |
| ストレージバッファ: | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| 精製方法: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
| シノニム: | CLN5; Ceroid-lipofuscinosis neuronal protein 5; Protein CLN5 |
| UniProt Protein Function: | CLN5: Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5); also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Belongs to the CLN5 family. |
| UniProt Protein Details: | Protein type:Membrane protein, integral Chromosomal Location of Human Ortholog: 13q22.3 Cellular Component: endoplasmic reticulum; Golgi apparatus; integral to membrane; lysosomal membrane; lysosome; perinuclear region of cytoplasm Molecular Function:mannose binding; protein binding Biological Process: brain development; lysosomal lumen acidification; neurogenesis; retrograde transport, endosome to Golgi; signal peptide processing Disease: Ceroid Lipofuscinosis, Neuronal, 5 |
| NCBI Summary: | 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.[provided by RefSeq, Oct 2008] |
| UniProt Code: | O75503 |
| NCBI GenInfo Identifier: | 187608866 |
| NCBI Gene ID: | 1203 |
| NCBI Accession: | O75503.2 |
| UniProt Secondary Accession: | O75503,B3KQK7, |
| UniProt Related Accession: | O75503 |
| Molecular Weight: | 41kDa |
| NCBI Full Name: | Ceroid-lipofuscinosis neuronal protein 5 |
| NCBI Synonym Full Names: | ceroid-lipofuscinosis, neuronal 5 |
| NCBI Official Symbol: | CLN5 |
| NCBI Official Synonym Symbols: | NCL |
| NCBI Protein Information: | ceroid-lipofuscinosis neuronal protein 5 |
| UniProt Protein Name: | Ceroid-lipofuscinosis neuronal protein 5 |
| Protein Family: | Cln5-like protein |
| UniProt Gene Name: | CLN5 |
