- ... disorder. Learn more about the gene associated with Mitochondrial membrane protein-associated neurodegeneration C19orf12 Inheritance This condition is ...
- ... Search term GeneReviews Advanced Search Help < Prev Next > Mitochondrial Membrane Protein-Associated Neurodegeneration Synonyms: NBIA4 Allison Gregory , MS, ...
- ... gene-summary ><gene-symbol >MPV17</gene-symbol><name >mitochondrial inner membrane protein MPV17</name><ghr-page >https://medlineplus.gov/ ... related-health-condition-list><synonym-list ><synonym >MpV17 mitochondrial inner membrane ... >MPV17, mitochondrial inner membrane protein</ ...
- ... Health Condition Other Names for This Gene MpV17 mitochondrial inner membrane protein MPV17, mitochondrial inner membrane protein MPV17_HUMAN MTDPS6 SYM1 Additional Information & Resources ...
- ... genetics/gene/mplkip</url></topic><topic ><title >MPV17: mitochondrial inner membrane protein MPV17</title><url >https://medlineplus.gov/genetics/ ...
- ... other proteins across the intermembrane space to the mitochondrial inner membrane. Health Conditions Related to Genetic Changes Deafness-dystonia- ... peptide DFN1 MGC12262 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 homolog A translocase of inner mitochondrial membrane ...
- ... the normal activity of complex I in the mitochondrial inner membrane, which may affect the production of ATP. It remains unclear, however, why the effects of this mutation are limited to the nerve ... complex I deficiency MedlinePlus Genetics provides information about ...
- ... the normal activity of complex I in the mitochondrial inner membrane, which may affect the generation of ATP. MT-ND1 mutations also may increase the production within mitochondria of potentially ... encephalomyopathy, lactic acidosis, and stroke-like episodes MT- ...
- ... lipid homeostasis. Health Conditions Related to Genetic Changes Mitochondrial membrane protein-associated neurodegeneration At least 28 mutations in ... been found to cause a condition known as mitochondrial membrane protein-associated neurodegeneration (MPAN), which is characterized by ...
- ... 2001 ] or in MPV17 , the gene encoding a mitochondrial inner membrane protein necessary for mtDNA maintenance [ Spinazzola et al ... Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial ...
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