蛋白质/抗原/多肽 >> 重组蛋白
重组肾病型胱氨酸症蛋白(CTNS)
产品介绍 基因名: CTNS 产品别名: CTNS-LSB; PQLC4; SLC66A4; CTNS; cystinosin, lysosomal cystine transporter; cystinosin, lysosomal cystine transporter; cystinosin; cystinosis nephropathic; 肾病型胱氨酸症蛋白(CTNS); 胱氨酸; 背景信息: 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. 标签:His-tag |
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