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New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions
TMEM165 is a Golgi protein playing a crucial role in Mn(2+) transport, and whose mutations in patients are known to cause Congenital Disorders of Glycosylation. Some of those mutations affect the highly-conserved consensus motifs E-φ-G-D-[KR]-[TS] characterizing the CaCA2/UPF0016 family, presumably...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Research Network of Computational and Structural Biotechnology
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319644/ https://www.ncbi.nlm.nih.gov/pubmed/37416081 http://dx.doi.org/10.1016/j.csbj.2023.06.015 |