Recombinant Human Cystinosin(CTNS)

Code CSB-CF006174HU
Product Type Transmembrane Protein
Size Pls inquiry other sizes
Uniprot No. O60931
Storage Buffer Tris-based buffer,50% glycerol
Species Homo sapiens (Human)
Source in vitro E.coli expression system
Gene Names CTNS
Protein Names Recommended name: Cystinosin
Expression Region 1-367
Tag Info N-terminal 10xHis-tagged
Protein Description full length protein
Storage Store at -20°C, for extended storage, conserve at -20°C or -80°C.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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Function 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.
Involvement in disease Cystinosis, nephropathic type (CTNS); Cystinosis, adult, non-nephropathic type (CTNSANN); Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)
Subcellular Location Isoform 1: Lysosome membrane, Multi-pass membrane protein, Melanosome, SUBCELLULAR LOCATION: Isoform 2: Lysosome membrane, Multi-pass membrane protein, Cell membrane, Multi-pass membrane protein
Protein Families Cystinosin family
Tissue Specificity 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 tra
Database Links

HGNC: 2518

OMIM: 219750

KEGG: hsa:1497

STRING: 9606.ENSP00000371294

UniGene: Hs.187667

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