TMEM165 抗体
(Transmembrane Protein 165 (TMEM165))
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012].
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Latest Publications for our TMEM165 抗体
: "Manganese-induced trafficking and turnover of GPP130 is mediated by sortilin." in: Molecular biology of the cell, Vol. 28, Issue 19, pp. 2569-2578, (2017) (PubMed).: "TMEM165 deficiency causes a congenital disorder of glycosylation." in: American journal of human genetics, Vol. 91, Issue 1, pp. 15-26, (2012) (PubMed).
Aliases for TMEM165 抗体
transmembrane protein 165 (tmem165) 抗体transmembrane protein 165 (TMEM165) 抗体
transmembrane protein 165 L homeolog (tmem165.L) 抗体
transmembrane protein 165 (MCYG_08032) 抗体
transmembrane protein 165 (MGYG_05482) 抗体
transmembrane protein 165 (Tmem165) 抗体
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