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胱氨酸抗体
半岛bd体育手机客户端 介绍
靶标:
CTNS 半岛bd体育手机客户端 别名: CTNS-LSB; PQLC4; SLC66A4; CTNS; cystinosin, lysosomal cystine transporter; cystinosin, lysosomal cystine transporter; cystinosin; cystinosis nephropathic; 胱氨酸; 背景信息:
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],
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