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Article

Evidence for splice transcript variants of TMEM165, a gene involved in CDG.

Biochimica et biophysica acta. General subjects - 1 Apr 2017

Krzewinski-Recchi Marie-Ange, Potelle Sven, Mir Anne-Marie, Vicogne Dorothée, Dulary Eudoxie, Duvet Sandrine, Morelle Willy, de Bettignies Geoffroy, Foulquier François

Abstract excerpt

BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex. TMEM165 protein is highly conserved in evolution and belongs to the family of UPF0016 membrane proteins which could be an unique group of Ca2+/H+ antiporters...

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PMID: 28088503
DOI: 10.1016/j.bbagen.2017.01.011

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