Varaico: Literature-Extracted Genetic Variants

Gene:TMEM165
Variant:p.E108G
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TMEM165

NM_018475.5:p.E108G

Associated Papers

Putative role of TMEM165 in congenital cardiomyopathies.

Gonçalves PP

Frontiers in Molecular Neuroscience, 2025

Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165.

Jankauskas SS et al.

The Journal of Biological Chemistry, 2024

A mechanism of lysosomal calcium entry.

Zajac M et al.

Science Advances, 2024

TMEM165 a new player in proteoglycan synthesis: loss of TMEM165 impairs elongation of chondroitin- and heparan-sulfate glycosaminoglycan chains of proteoglycans and triggers early chondrocyte differentiation and hypertrophy.

Khan S et al.

Cell Death & Disease, 2021

Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.

Foulquier F et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells.

Stribny J et al.

The Journal of Biological Chemistry, 2020

Investigating the functional link between TMEM165 and SPCA1.

Lebredonchel E et al.

The Biochemical Journal, 2019

Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.

Lebredonchel E et al.

Biochimie, 2019

CDG Therapies: From Bench to Bedside.

Brasil S et al.

International Journal of Molecular Sciences, 2018

Manganese-induced turnover of TMEM165.

Potelle S et al.

The Biochemical Journal, 2017

TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.

Dulary E et al.

Tissue & Cell, 2017

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

Krzewinski-Recchi MA et al.

Biochimica Et Biophysica Acta. General Subjects, 2017

TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Schulte Althoff S et al.

Jimd Reports, 2016

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