产品名称
CTNS Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/1497
Human Swissprot No.
O60931
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O60931/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/83429
Mouse Swissprot No.
P57757
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P57757
免疫原
Synthesized peptide derived from human CTNS AA range: 234-284
特异性
This antibody detects endogenous levels of CTNS at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009],
组织表达
Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030). ; [Isoform 2]: Represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
细胞定位
[Isoform 1]: Lysosome membrane ; Multi-pass membrane protein . Melanosome membrane ; Multi-pass membrane protein . AP-3 complex is required for localization to the lysosome. .; [Isoform 2]: Lysosome membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein .
功能
disease:Defects in CTNS are the cause of cystinosis [MIM:219800, 219900, 219750]. This autosomal recessive disorder results from defective lysosomal transport of cystine. The classical nephropathic form is characterized by renal failure at 10 years of age and other systemic complications. Milder phenotype exist such as intermediate cystinosis, with later onset of renal disease and benign or non-nephropathic cystinosis, with symptoms related only to corneal crystals and photophobia.,function:Thought to transport cystine out of lysosomes.,similarity:Belongs to the cystinosin family.,similarity:Contains 2 PQ-loop domains.,tissue specificity:Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
