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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.
基因功能參考文獻:
High TMEM165 expression is associated with hepatocellular carcinoma. PMID: 30015898
The finding of numerous splice variants could lead to a family of TMEM165 isoforms. PMID: 28088503
Data indicate the Golgi protein transmembrane protein 165 (TMEM165) as a manganese-sensitive protein in mammalian cells. PMID: 28270545
This manuscript is a review of the current state of knowledge on TMEM165 deficiencies in Congenital Disorders of Glycosylation as well as new data on function of TMEM165 and some speculative models on TMEM165/Golgi functions are discussed. PMID: 27401145
Study not only provides novel insights into the molecular causes of glycosylation defects observed in TMEM165-deficient cells but also suggests that TMEM165 is a key determinant for the regulation of Golgi Mn(2+) homeostasis. PMID: 27008884
Antisense oligonucleotide-mediated pseudoexon skipping used in a Golgi-resident protein, a promising treatment option for a specific TMEM165-congenital disorders of glycosylation. PMID: 24720419
Congenital Disorders of Glycosylation disease-causing mutations of TMEM165 changes subcellular localization of the protein. PMID: 23575229
Defects in TMEM165 affect both Ca2+ and pH homeostasis. PMID: 23569283
we identified TMEM165 (also named TPARL) as a gene involved in congenital disorders of glycosylation (CDG). PMID: 22683087
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相關疾病:
Congenital disorder of glycosylation 2K (CDG2K)
亞細胞定位:
Golgi apparatus membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane. Lysosome membrane. Early endosome membrane. Late endosome membrane.