CTNS Polyklonale Antilichaam

Cystinosis is an autosomal recessive disorder resulting from defective lysosomal transport of cystine and present at birth as a failure to thrive, rickets and proximal renal tubular acidosis. The human CTNS gene on chromosome 17p13 encodes the protein Cystinosin, and mutations in CTNS are responsible for nephropathic cystinosis. The CTNS promoter contains an Sp1 binding element. Cystinosin is an integral membrane protein containing 7 transmembrane domains that functions as a H+-driven transporter responsible for cystine export from lysosomes. In humans, Cystinosin is expressed abundantly in pancreas, kidney (mature and fetal), and skeletal muscle. The mouse homolog to CTNS encodes a protein which is expressed in all tissues except skeletal muscle. In the cell, Cystinosin co-localizes with LAMP-2 to lysosomes. A C-terminal GYDQL sorting motif within Cystinosin is critical for lysosomal localization.

CTNS LSB; Cystinosin; cystinosis, nephropathic; PQLC4; CTNS_HUMAN.

1497

Cytoplasm, Cell membrane

Human, Mouse, Rat

231-330/367

CTNS

Unconjugated

KLH conjugated synthetic peptide derived from human CTNS/Cystinosin

ELISA, IHC-P, IHC-F, IF (IHC-P), IF (IHC-F), IF (ICC)

Purified by Protein A.

1µg/µl

ELISA (1:500-1000), IHC-P (1:200-400), IHC-F (1:100-500), IF (IHC-P) (1:50-200), IF (IHC-F) (1:50-200), IF (ICC) (1:50-200)

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Unmodified

Shipped at 4C. Store at -20C for one year. Avoid repeated freeze/thaw cycles.

1497

Rabbit