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

AI Article Synopsis

  • TMEM165 is a newly identified protein linked to Congenital Disorders of Glycosylation (CDG-II) but its biological function remains uncharacterized.
  • Recent findings indicate that mutations in TMEM165 are associated with defects in Golgi glycosylation and specific skeletal phenotypes in patients.
  • This study shows that while wild-type TMEM165 is correctly localized in cells, mutations alter its localization, impacting functionality, with certain mutations restoring function in yeast models and others not affecting it at all.

Article Abstract

TMEM165 has recently been identified as a novel protein involved in CDG-II. TMEM165 has no biological function described so far. Different mutations were recently found in patients with Golgi glycosylation defects and harboring a peculiar skeletal phenotype. In this study, we examined the effect of naturally occurring mutations on the intracellular localization of TMEM165 and their abilities to complement the TMEM165-deficient yeast, gdt1▵. Wild-type TMEM165 was present within Golgi compartment, plasma membrane and late endosomes/lysosomes, whereas mutated TMEM165 were found differentially localized according to the mutations. We demonstrated that, in the yeast functional assay with TMEM165 ortholog Gdt1, the homozygous point mutation correlating with a mild phenotype restores the yeast functional assay, whereas the truncated mutation, associated with severe disease, failed to restore Gdt1 function. These studies highly suggest that these clinically relevant point mutations do not affect the protein function but critically changes the subcellular protein localization. Moreover, the data point to a critical role of the YNRL motif in TMEM165 subcellular localization.

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Source
http://dx.doi.org/10.1093/hmg/ddt146DOI Listing

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