CTNS blocking peptide

CTNS Antibody(C-term) Blocking peptide

• Gene Names: CTNS; PQLC4; CTNS-LSB
• Synonyms: CTNS; CTNS Antibody(C-term) Blocking peptide; Cystinosin; CTNS blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 367

• Cellular Location: Isoform 1: Lysosome membrane; Multi-pass membrane protein. Melanosome
• Tissue Location: Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for CTNS blocking peptide

Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.

NCBI and Uniprot Product Information

• NCBI GI #: 269849555
• NCBI GeneID: 1497
• UniProt Accession #: O60931; Q8IZ01; Q9UNK6; D3DTJ5
• Molecular Weight: 45,039 Da
• NCBI Official Full Name: Cystinosin
• NCBI Official Synonym Full Names: cystinosin, lysosomal cystine transporter
• NCBI Official Symbol: CTNS
• NCBI Official Synonym Symbols: PQLC4; CTNS-LSB
• NCBI Protein Information: cystinosin
• UniProt Protein Name: Cystinosin
• Protein Family: Cystinosin
• UniProt Gene Name: CTNS
• UniProt Entry Name: CTNS_HUMAN

NCBI Description

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]

Uniprot Description

CTNS: Thought to transport cystine out of lysosomes. Defects in CTNS are the cause of cystinosis nephropathic type (CTNS). It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. Defects in CTNS are the cause of cystinosis adult non- nephropathic type (CTNSANN). It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benigne course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. Defects in CTNS are the cause of cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN). It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. Belongs to the cystinosin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 17p13

Cellular Component: early endosome; intermediate filament cytoskeleton; intracellular membrane-bound organelle; late endosome; lysosomal membrane; lysosome

Molecular Function: L-cystine transmembrane transporter activity

Biological Process: ATP metabolic process; brain development; cognition; glutathione metabolic process; ion transport; L-cystine transport; transmembrane transport

Disease: Cystinosis, Adult Nonnephropathic; Cystinosis, Late-onset Juvenile Or Adolescent Nephropathic Type; Cystinosis, Nephropathic