Varaico: Literature-Extracted Genetic Variants

Gene:TMEM165
Variant:p.R126C
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TMEM165

NM_018475.5:p.R126C

Associated Papers

Lysosomal TMEM165 controls cellular ion homeostasis and survival by mediating lysosomal Ca2+ import and H+ efflux.

Chen R et al.

Nature Communications, 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

Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.

Chen S et al.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 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

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Lipiński P et al.

Diagnostics (basel, Switzerland), 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

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Linders PTA et al.

International Journal of Molecular Sciences, 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

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Ashikov A et al.

Human Molecular Genetics, 2018

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

Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.

Bammens R et al.

Glycobiology, 2015

Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.

Yuste-Checa P et al.

Clinical Genetics, 2015

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.

Rosnoblet C et al.

Human Molecular Genetics, 2013

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.

Demaegd D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

TMEM165 deficiency causes a congenital disorder of glycosylation.

Foulquier F et al.

American Journal of Human Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."