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| Mendeliome v2.0 | MTNAP1 | Gene symbol changed from C17orf80 to MTNAP1 during gene set migration (ENSG00000141219 -> ENSG00000141219) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4528 | C17orf80 |
Zornitza Stark gene: C17orf80 was added gene: C17orf80 was added to Mendeliome. Sources: Literature new gene name tags were added to gene: C17orf80. Mode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf80 were set to 41720819 Phenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970 Review for gene: C17orf80 was set to AMBER Added comment: PMID 41720819 reports 3 individuals from 2 unrelated families with biallelic MTNAP1 variants (hmz missense and hmz LoF) presenting with early‑onset global developmental delay, ataxia, spasticity, seizures and progressive cerebral and cerebellar atrophy. Functional studies in proband-derived fibroblasts and MTNAP1-silenced neuronal cells implicated profound mitochondrial fragmentation, reduced oxidative phosphorylation capacity, increased reactive oxygen species accumulation, and premature senescence-like stress responses. Structural modeling and biophysical analyses revealed that the p.G553R variant destabilizes the MTNAP1 fold, disrupts its DNA- and membrane-binding interfaces, and induces aberrant aggregation, leading to loss of mitochondrial integrity. Sources: Literature |
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